Linked Data
ClinVar Variation Id:
2420362
ClinVar RCV Id:
RCV003118887
dbSNP Id:
rs375919385
ExAC:
19:33892627 C / T
gnomAD v2:
19-33892627-C-T
gnomAD v3:
19-33401721-C-T
gnomAD v4:
19-33401721-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33401721C>T , CM000681.2:g.33401721C>T | GRCh38 |
| NC_000019.9:g.33892627C>T , CM000681.1:g.33892627C>T | GRCh37 |
| NC_000019.8:g.38584467C>T | NCBI36 |
| NG_013358.1:g.125173G>A | |
| NG_013358.2:g.125173G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.967G>A | ENSP00000468516.4:p.Gly323Ser | |
| ENST00000651901.2:c.967G>A | ENSP00000498922.2:p.Gly323Ser | |
| ENST00000698359.1:c.922G>A | ENSP00000513682.1:p.Gly308Ser | |
| ENST00000698360.1:c.1018G>A | ENSP00000513683.1:p.Gly340Ser | |
| ENST00000698361.1:c.967G>A | ENSP00000513684.1:p.Gly323Ser | |
| ENST00000698362.1:c.967G>A | ENSP00000513685.1:p.Gly323Arg | |
| ENST00000698363.1:n.1030G>A | ||
| ENST00000698364.1:n.1030G>A | ||
| ENST00000698365.1:n.1030G>A | ||
| ENST00000698426.1:c.646G>A | ENSP00000513713.1:p.Gly216Ser | |
| ENST00000698427.1:c.1009G>A | ENSP00000513714.1:p.Gly337Ser | |
| ENST00000698428.1:c.646G>A | ENSP00000513715.1:p.Gly216Ser | |
| ENST00000698429.1:n.850G>A | ||
| ENST00000698430.1:c.1217G>A | ||
| ENST00000698431.1:c.704G>A | ENSP00000513717.1:n.704G>A | |
| ENST00000698432.1:c.776G>A | ||
| ENST00000698433.1:n.429G>A | ||
| ENST00000698434.1:n.454G>A | ||
| ENST00000244137.12:c.967G>A MANE Select | ENSP00000244137.5:p.Gly323Ser | |
| ENST00000588328.6:c.956G>A | ||
| ENST00000590731.6:n.642G>A | ||
| ENST00000651901.1:c.963G>A | ||
| ENST00000244137.11:c.967G>A | ENSP00000244137.5:p.Gly323Ser | |
| ENST00000397032.8:c.844G>A | ENSP00000380226.3:p.Gly282Ser | |
| ENST00000436370.7:c.775G>A | ENSP00000391890.2:p.Gly259Ser | |
| ENST00000588328.5:c.458G>A | ||
| NM_000285.3:c.967G>A | NP_000276.2:p.Gly323Ser | |
| NM_001166056.1:c.844G>A | NP_001159528.1:p.Gly282Ser | |
| NM_001166057.1:c.775G>A | NP_001159529.1:p.Gly259Ser | |
| NM_000285.4:c.967G>A MANE Select | NP_000276.2:p.Gly323Ser | |
| NM_001166056.2:c.844G>A | NP_001159528.1:p.Gly282Ser | |
| NM_001166057.2:c.775G>A | NP_001159529.1:p.Gly259Ser |