MutSpliceDB: a database of Splice Sites Variants
Gene | HLA-C |
Mutation | NM_002117.6:c.1048+2T>G |
Allele registry ID | CA363319411 |
Effect | Intron inclusion between exons 6 & 7 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-G2-A3VY-01A | da7595aa-504a-46b9-9667-52260de1f477.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-G2-A3VY-01A_HLA-C_CA363319411.jpeg | hg38 |