Linked Data
ClinVar Variation Id:
328819
dbSNP Id:
rs375023206
ExAC:
19:33980958 G / A
gnomAD v2:
19-33980958-G-A
gnomAD v3:
19-33490052-G-A
gnomAD v4:
19-33490052-G-A
COSMIC:
COSM80326
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33490052G>A , CM000681.2:g.33490052G>A | GRCh38 |
| NC_000019.9:g.33980958G>A , CM000681.1:g.33980958G>A | GRCh37 |
| NC_000019.8:g.38672798G>A | NCBI36 |
| NG_013358.1:g.36842C>T | |
| NG_013358.2:g.36842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.447C>T | ENSP00000468516.4:p.Gly149= | |
| ENST00000651646.2:c.447C>T | ENSP00000498950.2:p.Gly149= | |
| ENST00000651901.2:c.447C>T | ENSP00000498922.2:p.Gly149= | |
| ENST00000698359.1:c.447C>T | ENSP00000513682.1:p.Gly149= | |
| ENST00000698360.1:c.447C>T | ENSP00000513683.1:p.Gly149= | |
| ENST00000698361.1:c.447C>T | ENSP00000513684.1:p.Gly149= | |
| ENST00000698362.1:c.447C>T | ENSP00000513685.1:p.Gly149= | |
| ENST00000698363.1:n.510C>T | ||
| ENST00000698364.1:n.510C>T | ||
| ENST00000698365.1:n.510C>T | ||
| ENST00000698426.1:c.126C>T | ENSP00000513713.1:p.Gly42= | |
| ENST00000698427.1:c.489C>T | ENSP00000513714.1:p.Gly163= | |
| ENST00000698428.1:c.126C>T | ENSP00000513715.1:p.Gly42= | |
| ENST00000698430.1:c.697C>T | ||
| ENST00000698431.1:c.240+3238C>T | ENSP00000513717.1:n.240+3238C>T | |
| ENST00000698432.1:c.313-11962C>T | ||
| ENST00000698435.1:c.135C>T | ENSP00000513719.1:p.Gly45= | |
| ENST00000698436.1:c.*59C>T | ENSP00000513720.1:n.*59C>T | |
| ENST00000698437.1:n.430C>T | ||
| ENST00000698438.1:n.429C>T | ||
| ENST00000698439.1:c.360+10886C>T | ENSP00000513721.1:n.360+10886C>T | |
| ENST00000244137.12:c.447C>T MANE Select | ENSP00000244137.5:p.Gly149= | |
| ENST00000588328.6:c.436C>T | ||
| ENST00000651646.1:c.445C>T | ||
| ENST00000651901.1:c.443C>T | ||
| ENST00000244137.11:c.447C>T | ENSP00000244137.5:p.Gly149= | |
| ENST00000397032.8:c.447C>T | ENSP00000380226.3:p.Gly149= | |
| ENST00000436370.7:c.255C>T | ENSP00000391890.2:p.Gly85= | |
| ENST00000590408.1:c.165C>T | ||
| ENST00000590755.6:c.54C>T | ENSP00000476667.1:p.Gly18= | |
| ENST00000593163.5:n.612C>T | ||
| ENST00000609145.5:c.-121C>T | ENSP00000476514.1:n.-121C>T | |
| NM_000285.3:c.447C>T | NP_000276.2:p.Gly149= | |
| NM_001166056.1:c.447C>T | NP_001159528.1:p.Gly149= | |
| NM_001166057.1:c.255C>T | NP_001159529.1:p.Gly85= | |
| NM_000285.4:c.447C>T MANE Select | NP_000276.2:p.Gly149= | |
| NM_001166056.2:c.447C>T | NP_001159528.1:p.Gly149= | |
| NM_001166057.2:c.255C>T | NP_001159529.1:p.Gly85= |