Linked Data
ClinVar Variation Id:
188303
ClinVar RCV Id:
RCV001194974
dbSNP Id:
rs786204205
gnomAD v4:
9-35074384-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35074384C>A , CM000671.2:g.35074384C>A | GRCh38 |
| NC_000009.11:g.35074381C>A , CM000671.1:g.35074381C>A | GRCh37 |
| NC_000009.10:g.35064381C>A | NCBI36 |
| NG_007312.1:g.10633G>T , LRG_499:g.10633G>T | |
| NG_007887.1:g.3359G>T , LRG_657:g.3359G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448890.2:c.1747G>T | ENSP00000409607.2:p.Glu583Ter | |
| ENST00000461149.2:n.3567G>T | ||
| ENST00000696700.1:n.3602G>T | ||
| ENST00000696701.1:n.2047G>T | ||
| ENST00000696702.1:c.*1198G>T | ENSP00000512821.1:n.*1198G>T | |
| ENST00000696703.1:c.*1131G>T | ENSP00000512822.1:n.*1131G>T | |
| ENST00000696706.1:n.1810G>T | ||
| ENST00000696707.1:n.1964G>T | ||
| ENST00000696708.1:c.*1092G>T | ENSP00000512825.1:n.*1092G>T | |
| ENST00000696709.1:n.2966G>T | ||
| ENST00000696710.1:c.1741G>T | ENSP00000512826.1:p.Glu581Ter | |
| ENST00000696711.1:n.4434G>T | ||
| ENST00000696712.1:n.2466G>T | ||
| ENST00000696713.1:c.*50G>T | ENSP00000512827.1:n.*50G>T | |
| ENST00000696714.1:n.2759G>T | ||
| ENST00000696715.1:c.1747G>T | ENSP00000512828.1:p.Glu583Ter | |
| ENST00000378643.8:c.1747G>T MANE Select | ENSP00000367910.4:p.Glu583Ter | |
| ENST00000378643.7:c.1747G>T | ENSP00000367910.3:p.Glu583Ter | |
| ENST00000425676.5:c.*1223G>T | ENSP00000412793.1:n.*1223G>T | |
| ENST00000476212.1:n.93G>T | ||
| NM_004629.1:c.1747G>T , LRG_499t1:c.1747G>T | NP_004620.1:p.Glu583Ter | |
| NM_004629.2:c.1747G>T MANE Select | NP_004620.1:p.Glu583Ter |