Linked Data
ClinVar Variation Id:
977179
ClinVar RCV Id:
RCV001254768
dbSNP Id:
rs768519164
ExAC:
7:150648172 G / A
gnomAD v2:
7-150648172-G-A
gnomAD v3:
7-150951084-G-A
gnomAD v4:
7-150951084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951084G>A , CM000669.2:g.150951084G>A | GRCh38 |
| NC_000007.13:g.150648172G>A , CM000669.1:g.150648172G>A | GRCh37 |
| NC_000007.12:g.150279105G>A | NCBI36 |
| NG_008916.1:g.31843C>T , LRG_288:g.31843C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1280C>T | ||
| ENST00000683359.1:n.106C>T | ||
| ENST00000684241.1:n.2815C>T | ||
| ENST00000262186.10:c.1982C>T MANE Select | ENSP00000262186.5:p.Ala661Val | |
| ENST00000330883.9:c.962C>T | ENSP00000328531.4:p.Ala321Val | |
| ENST00000262186.9:c.1982C>T | ENSP00000262186.5:p.Ala661Val | |
| ENST00000330883.8:c.962C>T | ENSP00000328531.4:p.Ala321Val | |
| ENST00000430723.4:c.1634C>T | ENSP00000387657.4:p.Ala545Val | |
| ENST00000461280.1:n.1269C>T | ||
| ENST00000473610.5:n.1614C>T | ||
| ENST00000532957.5:n.2205C>T | ||
| NM_000238.3:c.1982C>T , LRG_288t1:c.1982C>T | NP_000229.1:p.Ala661Val | |
| NM_001204798.1:c.962C>T | NP_001191727.1:p.Ala321Val | |
| NM_172056.2:c.1982C>T , LRG_288t2:c.1982C>T | NP_742053.1:p.Ala661Val | |
| NM_172057.2:c.962C>T , LRG_288t3:c.962C>T | NP_742054.1:p.Ala321Val | |
| XM_011516185.1:c.1682C>T | XP_011514487.1:p.Ala561Val | |
| XM_011516186.1:c.1982C>T | XP_011514488.1:p.Ala661Val | |
| XM_011516185.2:c.1682C>T | XP_011514487.1:p.Ala561Val | |
| XM_011516186.3:c.1982C>T | XP_011514488.1:p.Ala661Val | |
| XM_017012195.1:c.1832C>T | XP_016867684.1:p.Ala611Val | |
| XM_017012196.1:c.1805C>T | XP_016867685.1:p.Ala602Val | |
| NM_000238.4:c.1982C>T MANE Select | NP_000229.1:p.Ala661Val | |
| NM_001204798.2:c.962C>T | NP_001191727.1:p.Ala321Val | |
| NM_172057.3:c.962C>T | NP_742054.1:p.Ala321Val |