Linked Data
ClinVar Variation Id:
239964
dbSNP Id:
rs201422773
ExAC:
9:35075015 G / A
gnomAD v2:
9-35075015-G-A
gnomAD v3:
9-35075018-G-A
gnomAD v4:
9-35075018-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35075018G>A , CM000671.2:g.35075018G>A | GRCh38 |
| NC_000009.11:g.35075015G>A , CM000671.1:g.35075015G>A | GRCh37 |
| NC_000009.10:g.35065015G>A | NCBI36 |
| NG_007312.1:g.9999C>T , LRG_499:g.9999C>T | |
| NG_007887.1:g.2725C>T , LRG_657:g.2725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.1545C>T | ENSP00000409607.2:p.Ala515= | |
| ENST00000461149.2:n.2933C>T | ||
| ENST00000696700.1:n.2968C>T | ||
| ENST00000696701.1:n.1845C>T | ||
| ENST00000696702.1:c.*996C>T | ENSP00000512821.1:n.*996C>T | |
| ENST00000696703.1:c.*929C>T | ENSP00000512822.1:n.*929C>T | |
| ENST00000696706.1:n.1608C>T | ||
| ENST00000696707.1:n.1762C>T | ||
| ENST00000696708.1:c.*890C>T | ENSP00000512825.1:n.*890C>T | |
| ENST00000696709.1:n.2332C>T | ||
| ENST00000696710.1:c.1539C>T | ENSP00000512826.1:p.Ala513= | |
| ENST00000696711.1:n.3800C>T | ||
| ENST00000696712.1:n.1832C>T | ||
| ENST00000696713.1:c.1545C>T | ENSP00000512827.1:p.Ala515= | |
| ENST00000696714.1:n.2125C>T | ||
| ENST00000696715.1:c.1545C>T | ENSP00000512828.1:p.Ala515= | |
| ENST00000378643.8:c.1545C>T MANE Select | ENSP00000367910.4:p.Ala515= | |
| ENST00000378643.7:c.1545C>T | ENSP00000367910.3:p.Ala515= | |
| ENST00000425676.5:c.*1021C>T | ENSP00000412793.1:n.*1021C>T | |
| ENST00000476212.1:n.45-586C>T | ||
| ENST00000481254.1:n.353C>T | ||
| NM_004629.1:c.1545C>T , LRG_499t1:c.1545C>T | NP_004620.1:p.Ala515= | |
| NM_004629.2:c.1545C>T MANE Select | NP_004620.1:p.Ala515= |