Linked Data
ClinVar Variation Id:
2080294
ClinVar RCV Id:
RCV003001818
dbSNP Id:
rs761375920
ExAC:
12:53701316 C / T
gnomAD v2:
12-53701316-C-T
gnomAD v4:
12-53307532-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307532C>T , CM000674.2:g.53307532C>T | GRCh38 |
| NC_000012.11:g.53701316C>T , CM000674.1:g.53701316C>T | GRCh37 |
| NC_000012.10:g.51987583C>T | NCBI36 |
| NG_016775.1:g.19097G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1598G>A MANE Select | ENSP00000209873.4:p.Gly533Glu | |
| ENST00000546562.6:n.2662G>A | ||
| ENST00000547238.6:n.2234G>A | ||
| ENST00000547757.2:c.*516G>A | ENSP00000448020.2:n.*516G>A | |
| ENST00000548931.6:c.1033G>A | ENSP00000457518.1:p.Gly345Ser | |
| ENST00000549450.6:n.1532G>A | ||
| ENST00000672797.1:n.2087G>A | ||
| ENST00000209873.8:c.1598G>A | ENSP00000209873.4:p.Gly533Glu | |
| ENST00000394384.7:c.1499G>A | ENSP00000377908.3:p.Gly500Glu | |
| ENST00000548931.5:c.1033G>A | ENSP00000457518.1:p.Gly345Ser | |
| ENST00000550286.5:c.1226G>A | ENSP00000446885.1:p.Gly409Glu | |
| ENST00000552876.5:n.1941G>A | ||
| NM_001173466.1:c.1499G>A | NP_001166937.1:p.Gly500Glu | |
| NM_015665.5:c.1598G>A | NP_056480.1:p.Gly533Glu | |
| XM_006719617.2:c.1613G>A | XP_006719680.1:p.Gly538Glu | |
| XM_011538777.1:c.1655G>A | XP_011537079.1:p.Gly552Glu | |
| XM_011538778.1:c.1640G>A | XP_011537080.1:p.Gly547Glu | |
| XM_011538779.1:c.1556G>A | XP_011537081.1:p.Gly519Glu | |
| XM_011538780.1:c.1541G>A | XP_011537082.1:p.Gly514Glu | |
| XM_011538781.1:c.989G>A | XP_011537083.1:p.Gly330Glu | |
| XM_011538778.2:c.1640G>A | XP_011537080.1:p.Gly547Glu | |
| XM_011538780.2:c.1541G>A | XP_011537082.1:p.Gly514Glu | |
| XR_001748875.2:n.1655G>A | ||
| NM_015665.6:c.1598G>A MANE Select | NP_056480.1:p.Gly533Glu | |
| NM_001173466.2:c.1499G>A | NP_001166937.1:p.Gly500Glu |