Linked Data
ClinVar Variation Id:
309718
dbSNP Id:
rs34451260
ExAC:
12:53701317 C / T
gnomAD v2:
12-53701317-C-T
gnomAD v3:
12-53307533-C-T
gnomAD v4:
12-53307533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307533C>T , CM000674.2:g.53307533C>T | GRCh38 |
| NC_000012.11:g.53701317C>T , CM000674.1:g.53701317C>T | GRCh37 |
| NC_000012.10:g.51987584C>T | NCBI36 |
| NG_016775.1:g.19096G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1597G>A MANE Select | ENSP00000209873.4:p.Gly533Arg | |
| ENST00000546562.6:n.2661G>A | ||
| ENST00000547238.6:n.2233G>A | ||
| ENST00000547757.2:c.*515G>A | ENSP00000448020.2:n.*515G>A | |
| ENST00000548931.6:c.1032G>A | ENSP00000457518.1:p.Gln344= | |
| ENST00000549450.6:n.1531G>A | ||
| ENST00000672797.1:n.2086G>A | ||
| ENST00000209873.8:c.1597G>A | ENSP00000209873.4:p.Gly533Arg | |
| ENST00000394384.7:c.1498G>A | ENSP00000377908.3:p.Gly500Arg | |
| ENST00000548931.5:c.1032G>A | ENSP00000457518.1:p.Gln344= | |
| ENST00000550286.5:c.1225G>A | ENSP00000446885.1:p.Gly409Arg | |
| ENST00000552876.5:n.1940G>A | ||
| NM_001173466.1:c.1498G>A | NP_001166937.1:p.Gly500Arg | |
| NM_015665.5:c.1597G>A | NP_056480.1:p.Gly533Arg | |
| XM_006719617.2:c.1612G>A | XP_006719680.1:p.Gly538Arg | |
| XM_011538777.1:c.1654G>A | XP_011537079.1:p.Gly552Arg | |
| XM_011538778.1:c.1639G>A | XP_011537080.1:p.Gly547Arg | |
| XM_011538779.1:c.1555G>A | XP_011537081.1:p.Gly519Arg | |
| XM_011538780.1:c.1540G>A | XP_011537082.1:p.Gly514Arg | |
| XM_011538781.1:c.988G>A | XP_011537083.1:p.Gly330Arg | |
| XM_011538778.2:c.1639G>A | XP_011537080.1:p.Gly547Arg | |
| XM_011538780.2:c.1540G>A | XP_011537082.1:p.Gly514Arg | |
| XR_001748875.2:n.1654G>A | ||
| NM_015665.6:c.1597G>A MANE Select | NP_056480.1:p.Gly533Arg | |
| NM_001173466.2:c.1498G>A | NP_001166937.1:p.Gly500Arg |