Linked Data
dbSNP Id:
rs758829882
ExAC:
12:53701459 G / A
gnomAD v2:
12-53701459-G-A
gnomAD v4:
12-53307675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307675G>A , CM000674.2:g.53307675G>A | GRCh38 |
| NC_000012.11:g.53701459G>A , CM000674.1:g.53701459G>A | GRCh37 |
| NC_000012.10:g.51987726G>A | NCBI36 |
| NG_016775.1:g.18954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1455C>T MANE Select | ENSP00000209873.4:p.Tyr485= | |
| ENST00000546562.6:n.2519C>T | ||
| ENST00000547238.6:n.2091C>T | ||
| ENST00000547520.6:n.1571C>T | ||
| ENST00000547757.2:c.*373C>T | ENSP00000448020.2:n.*373C>T | |
| ENST00000548880.2:n.1905C>T | ||
| ENST00000548931.6:c.890C>T | ENSP00000457518.1:p.Thr297Ile | |
| ENST00000549450.6:n.1389C>T | ||
| ENST00000552161.6:n.2533C>T | ||
| ENST00000672797.1:n.1944C>T | ||
| ENST00000209873.8:c.1455C>T | ENSP00000209873.4:p.Tyr485= | |
| ENST00000394384.7:c.1356C>T | ENSP00000377908.3:p.Tyr452= | |
| ENST00000548931.5:c.890C>T | ENSP00000457518.1:p.Thr297Ile | |
| ENST00000550286.5:c.1083C>T | ENSP00000446885.1:p.Tyr361= | |
| ENST00000552876.5:n.1798C>T | ||
| NM_001173466.1:c.1356C>T | NP_001166937.1:p.Tyr452= | |
| NM_015665.5:c.1455C>T | NP_056480.1:p.Tyr485= | |
| XM_006719617.2:c.1470C>T | XP_006719680.1:p.Tyr490= | |
| XM_011538777.1:c.1512C>T | XP_011537079.1:p.Tyr504= | |
| XM_011538778.1:c.1497C>T | XP_011537080.1:p.Tyr499= | |
| XM_011538779.1:c.1413C>T | XP_011537081.1:p.Tyr471= | |
| XM_011538780.1:c.1398C>T | XP_011537082.1:p.Tyr466= | |
| XM_011538781.1:c.846C>T | XP_011537083.1:p.Tyr282= | |
| XM_011538778.2:c.1497C>T | XP_011537080.1:p.Tyr499= | |
| XM_011538780.2:c.1398C>T | XP_011537082.1:p.Tyr466= | |
| XR_001748875.2:n.1512C>T | ||
| NM_015665.6:c.1455C>T MANE Select | NP_056480.1:p.Tyr485= | |
| NM_001173466.2:c.1356C>T | NP_001166937.1:p.Tyr452= |