Linked Data
ClinVar Variation Id:
1906954
ClinVar RCV Id:
RCV002577867
dbSNP Id:
rs760466367
ExAC:
8:103220387 C / T
gnomAD v2:
8-103220387-C-T
gnomAD v3:
8-102208159-C-T
gnomAD v4:
8-102208159-C-T
COSMIC:
COSM5952268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102208159C>T , CM000670.2:g.102208159C>T | GRCh38 |
| NC_000008.10:g.103220387C>T , CM000670.1:g.103220387C>T | GRCh37 |
| NC_000008.9:g.103289563C>T | NCBI36 |
| NG_016617.1:g.35960G>A , LRG_788:g.35960G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.1030G>A MANE Select | ENSP00000251810.3:p.Val344Ile | |
| ENST00000251810.7:c.1030G>A | ENSP00000251810.3:p.Val344Ile | |
| ENST00000395910.6:n.417G>A | ||
| ENST00000395912.6:c.874G>A | ENSP00000379248.2:p.Val292Ile | |
| ENST00000519317.5:c.394G>A | ENSP00000430641.1:p.Val132Ile | |
| ENST00000519962.5:c.175G>A | ENSP00000429140.1:p.Val59Ile | |
| ENST00000522368.5:c.1199G>A | ||
| ENST00000522394.1:c.363G>A | ENSP00000429578.1:n.363G>A | |
| ENST00000621845.1:c.868G>A | ENSP00000484318.1:p.Val290Ile | |
| NM_001172477.1:c.1246G>A , LRG_788t1:c.1246G>A | NP_001165948.1:p.Val416Ile | |
| NM_001172478.1:c.874G>A | NP_001165949.1:p.Val292Ile | |
| NM_015713.4:c.1030G>A , LRG_788t2:c.1030G>A | NP_056528.2:p.Val344Ile | |
| NM_001172478.2:c.874G>A | NP_001165949.1:p.Val292Ile | |
| NM_015713.5:c.1030G>A MANE Select | NP_056528.2:p.Val344Ile |