Linked Data
ClinVar Variation Id:
325096
dbSNP Id:
rs767631739
ExAC:
17:73520364 C / T
gnomAD v2:
17-73520364-C-T
gnomAD v3:
17-75524283-C-T
gnomAD v4:
17-75524283-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524283C>T , CM000679.2:g.75524283C>T | GRCh38 |
| NC_000017.10:g.73520364C>T , CM000679.1:g.73520364C>T | GRCh37 |
| NC_000017.9:g.71031959C>T | NCBI36 |
| NG_013041.1:g.12756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1452C>T MANE Select | ENSP00000327487.6:p.Asp484= | |
| ENST00000434205.8:c.1149C>T | ENSP00000406559.4:p.Asp383= | |
| ENST00000545228.3:c.1640C>T | ENSP00000438169.3:p.Thr547Ile | |
| ENST00000577197.2:n.650C>T | ||
| ENST00000579449.2:n.2192C>T | ||
| ENST00000580013.6:n.2596C>T | ||
| ENST00000679370.1:n.2974C>T | ||
| ENST00000679429.1:c.*910C>T | ENSP00000505403.1:n.*910C>T | |
| ENST00000679443.1:n.1521C>T | ||
| ENST00000679782.1:c.*151C>T | ENSP00000505995.1:n.*151C>T | |
| ENST00000679919.1:n.1723C>T | ||
| ENST00000679928.1:c.*2004C>T | ENSP00000506071.1:n.*2004C>T | |
| ENST00000680528.1:n.2418C>T | ||
| ENST00000680999.1:c.1665C>T | ENSP00000504984.1:p.Asp555= | |
| ENST00000681282.1:c.*1639C>T | ENSP00000506339.1:n.*1639C>T | |
| ENST00000333213.10:c.1452C>T | ENSP00000327487.6:p.Asp484= | |
| ENST00000545228.2:c.729C>T | ||
| ENST00000577197.1:n.200C>T | ||
| ENST00000579449.1:n.649C>T | ||
| NM_207346.2:c.1452C>T | NP_997229.2:p.Asp484= | |
| XM_005257229.2:c.1640C>T | XP_005257286.1:p.Thr547Ile | |
| XM_006721821.2:c.1337C>T | XP_006721884.1:p.Thr446Ile | |
| XM_011524616.1:c.1523C>T | XP_011522918.1:p.Thr508Ile | |
| XM_011524617.1:c.*34C>T | XP_011522919.1:n.*34C>T | |
| XM_011524618.1:c.1335C>T | XP_011522920.1:p.Asp445= | |
| XR_243646.2:n.1684C>T | ||
| XM_005257229.4:c.1640C>T | XP_005257286.1:p.Thr547Ile | |
| XR_001753015.1:n.87+28G>A | ||
| XR_001753016.1:n.88+28G>A | ||
| XR_243646.4:n.1690C>T | ||
| NM_207346.3:c.1452C>T MANE Select | NP_997229.2:p.Asp484= |