Linked Data
ClinVar Variation Id:
328805
dbSNP Id:
rs371699300
ExAC:
19:33892760 G / A
gnomAD v2:
19-33892760-G-A
gnomAD v3:
19-33401854-G-A
gnomAD v4:
19-33401854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33401854G>A , CM000681.2:g.33401854G>A | GRCh38 |
| NC_000019.9:g.33892760G>A , CM000681.1:g.33892760G>A | GRCh37 |
| NC_000019.8:g.38584600G>A | NCBI36 |
| NG_013358.1:g.125040C>T | |
| NG_013358.2:g.125040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.834C>T | ENSP00000468516.4:p.Gly278= | |
| ENST00000651901.2:c.834C>T | ENSP00000498922.2:p.Gly278= | |
| ENST00000698359.1:c.789C>T | ENSP00000513682.1:p.Gly263= | |
| ENST00000698360.1:c.885C>T | ENSP00000513683.1:p.Gly295= | |
| ENST00000698361.1:c.834C>T | ENSP00000513684.1:p.Gly278= | |
| ENST00000698362.1:c.834C>T | ENSP00000513685.1:p.Gly278= | |
| ENST00000698363.1:n.897C>T | ||
| ENST00000698364.1:n.897C>T | ||
| ENST00000698365.1:n.897C>T | ||
| ENST00000698426.1:c.513C>T | ENSP00000513713.1:p.Gly171= | |
| ENST00000698427.1:c.876C>T | ENSP00000513714.1:p.Gly292= | |
| ENST00000698428.1:c.513C>T | ENSP00000513715.1:p.Gly171= | |
| ENST00000698429.1:n.717C>T | ||
| ENST00000698430.1:c.1084C>T | ||
| ENST00000698431.1:c.571C>T | ENSP00000513717.1:n.571C>T | |
| ENST00000698432.1:c.643C>T | ||
| ENST00000698433.1:n.296C>T | ||
| ENST00000698434.1:n.321C>T | ||
| ENST00000698435.1:c.522C>T | ENSP00000513719.1:p.Gly174= | |
| ENST00000244137.12:c.834C>T MANE Select | ENSP00000244137.5:p.Gly278= | |
| ENST00000588328.6:c.823C>T | ||
| ENST00000590731.6:n.509C>T | ||
| ENST00000651901.1:c.830C>T | ||
| ENST00000244137.11:c.834C>T | ENSP00000244137.5:p.Gly278= | |
| ENST00000397032.8:c.711C>T | ENSP00000380226.3:p.Gly237= | |
| ENST00000436370.7:c.642C>T | ENSP00000391890.2:p.Gly214= | |
| ENST00000588328.5:c.325C>T | ||
| ENST00000588719.5:n.469C>T | ||
| ENST00000590731.5:n.509C>T | ||
| ENST00000593163.5:n.999C>T | ||
| ENST00000609145.5:c.267C>T | ENSP00000476514.1:p.Gly89= | |
| NM_000285.3:c.834C>T | NP_000276.2:p.Gly278= | |
| NM_001166056.1:c.711C>T | NP_001159528.1:p.Gly237= | |
| NM_001166057.1:c.642C>T | NP_001159529.1:p.Gly214= | |
| NM_000285.4:c.834C>T MANE Select | NP_000276.2:p.Gly278= | |
| NM_001166056.2:c.711C>T | NP_001159528.1:p.Gly237= | |
| NM_001166057.2:c.642C>T | NP_001159529.1:p.Gly214= |