Linked Data
ClinVar Variation Id:
2429828
ClinVar RCV Id:
RCV003127267
dbSNP Id:
rs138175128
ExAC:
12:46246599 G / A
gnomAD v2:
12-46246599-G-A
gnomAD v3:
12-45852816-G-A
gnomAD v4:
12-45852816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852816G>A , CM000674.2:g.45852816G>A | GRCh38 |
| NC_000012.11:g.46246599G>A , CM000674.1:g.46246599G>A | GRCh37 |
| NC_000012.10:g.44532866G>A | NCBI36 |
| NG_052800.1:g.128152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4693G>A | ENSP00000415650.3:p.Val1565Ile | |
| ENST00000457135.2:c.902G>A | ||
| ENST00000334344.11:c.4693G>A MANE Select | ENSP00000335044.6:p.Val1565Ile | |
| ENST00000422737.6:c.4614G>A | ||
| ENST00000334344.10:c.4693G>A | ENSP00000335044.6:p.Val1565Ile | |
| ENST00000422737.5:c.4246G>A | ENSP00000415650.1:p.Val1416Ile | |
| ENST00000444670.5:c.3523G>A | ENSP00000397307.1:p.Val1175Ile | |
| ENST00000457135.1:c.517G>A | ENSP00000388357.1:p.Val173Ile | |
| ENST00000479608.5:n.3984G>A | ||
| NM_152641.2:c.4693G>A | NP_689854.2:p.Val1565Ile | |
| XM_006719272.2:c.4693G>A | XP_006719335.1:p.Val1565Ile | |
| XM_011538025.1:c.3061G>A | XP_011536327.1:p.Val1021Ile | |
| XR_944505.1:n.4841G>A | ||
| NM_001347839.1:c.4693G>A | NP_001334768.1:p.Val1565Ile | |
| NM_152641.3:c.4693G>A | NP_689854.2:p.Val1565Ile | |
| XM_006719272.4:c.4693G>A | XP_006719335.1:p.Val1565Ile | |
| XR_944505.3:n.4824G>A | ||
| NM_152641.4:c.4693G>A MANE Select | NP_689854.2:p.Val1565Ile | |
| NM_001347839.2:c.4693G>A | NP_001334768.1:p.Val1565Ile |