Linked Data
ClinVar Variation Id:
954350
ClinVar RCV Id:
RCV001226794
dbSNP Id:
rs770557644
ExAC:
1:154544236 G / A
gnomAD v4:
1-154571760-G-A
COSMIC:
COSM2154212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571760G>A , CM000663.2:g.154571760G>A | GRCh38 |
| NC_000001.10:g.154544236G>A , CM000663.1:g.154544236G>A | GRCh37 |
| NC_000001.9:g.152810860G>A | NCBI36 |
| NG_008027.1:g.8980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.937G>A MANE Select | ENSP00000357461.3:p.Val313Ile | |
| ENST00000636034.1:c.937G>A | ENSP00000489703.1:p.Val313Ile | |
| ENST00000637900.1:c.943G>A | ENSP00000490474.1:p.Val315Ile | |
| ENST00000368476.3:c.937G>A | ENSP00000357461.3:p.Val313Ile | |
| NM_000748.2:c.937G>A | NP_000739.1:p.Val313Ile | |
| XM_017000180.2:c.427G>A | XP_016855669.1:p.Val143Ile | |
| XR_001736952.2:n.1189G>A | ||
| NM_000748.3:c.937G>A MANE Select | NP_000739.1:p.Val313Ile |