Linked Data
ClinVar Variation Id:
328815
dbSNP Id:
rs370105932
ExAC:
19:33980913 G / A
gnomAD v2:
19-33980913-G-A
gnomAD v3:
19-33490007-G-A
gnomAD v4:
19-33490007-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33490007G>A , CM000681.2:g.33490007G>A | GRCh38 |
| NC_000019.9:g.33980913G>A , CM000681.1:g.33980913G>A | GRCh37 |
| NC_000019.8:g.38672753G>A | NCBI36 |
| NG_013358.1:g.36887C>T | |
| NG_013358.2:g.36887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.492C>T | ENSP00000468516.4:p.Asp164= | |
| ENST00000651646.2:c.492C>T | ENSP00000498950.2:p.Asp164= | |
| ENST00000651901.2:c.492C>T | ENSP00000498922.2:p.Asp164= | |
| ENST00000698359.1:c.492C>T | ENSP00000513682.1:p.Asp164= | |
| ENST00000698360.1:c.492C>T | ENSP00000513683.1:p.Asp164= | |
| ENST00000698361.1:c.492C>T | ENSP00000513684.1:p.Asp164= | |
| ENST00000698362.1:c.492C>T | ENSP00000513685.1:p.Asp164= | |
| ENST00000698363.1:n.555C>T | ||
| ENST00000698364.1:n.555C>T | ||
| ENST00000698365.1:n.555C>T | ||
| ENST00000698426.1:c.171C>T | ENSP00000513713.1:p.Asp57= | |
| ENST00000698427.1:c.534C>T | ENSP00000513714.1:p.Asp178= | |
| ENST00000698428.1:c.171C>T | ENSP00000513715.1:p.Asp57= | |
| ENST00000698430.1:c.742C>T | ||
| ENST00000698431.1:c.240+3283C>T | ENSP00000513717.1:n.240+3283C>T | |
| ENST00000698432.1:c.313-11917C>T | ||
| ENST00000698435.1:c.180C>T | ENSP00000513719.1:p.Asp60= | |
| ENST00000698436.1:c.*104C>T | ENSP00000513720.1:n.*104C>T | |
| ENST00000698437.1:n.475C>T | ||
| ENST00000698438.1:n.474C>T | ||
| ENST00000698439.1:c.360+10931C>T | ENSP00000513721.1:n.360+10931C>T | |
| ENST00000244137.12:c.492C>T MANE Select | ENSP00000244137.5:p.Asp164= | |
| ENST00000588328.6:c.481C>T | ||
| ENST00000651646.1:c.490C>T | ||
| ENST00000651901.1:c.488C>T | ||
| ENST00000244137.11:c.492C>T | ENSP00000244137.5:p.Asp164= | |
| ENST00000397032.8:c.492C>T | ENSP00000380226.3:p.Asp164= | |
| ENST00000436370.7:c.300C>T | ENSP00000391890.2:p.Asp100= | |
| ENST00000590408.1:c.210C>T | ||
| ENST00000590755.6:c.99C>T | ENSP00000476667.1:p.Asp33= | |
| ENST00000593163.5:n.657C>T | ||
| ENST00000609145.5:c.-76C>T | ENSP00000476514.1:n.-76C>T | |
| NM_000285.3:c.492C>T | NP_000276.2:p.Asp164= | |
| NM_001166056.1:c.492C>T | NP_001159528.1:p.Asp164= | |
| NM_001166057.1:c.300C>T | NP_001159529.1:p.Asp100= | |
| NM_000285.4:c.492C>T MANE Select | NP_000276.2:p.Asp164= | |
| NM_001166056.2:c.492C>T | NP_001159528.1:p.Asp164= | |
| NM_001166057.2:c.300C>T | NP_001159529.1:p.Asp100= |