Linked Data
ClinVar Variation Id:
30997
dbSNP Id:
rs369255297
ExAC:
17:8134652 C / T
gnomAD v2:
17-8134652-C-T
gnomAD v3:
17-8231334-C-T
gnomAD v4:
17-8231334-C-T
PubMed:
PMID:22267198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8231334C>T , CM000679.2:g.8231334C>T | GRCh38 |
| NC_000017.10:g.8134652C>T , CM000679.1:g.8134652C>T | GRCh37 |
| NC_000017.9:g.8075377C>T | NCBI36 |
| NG_032148.1:g.21762G>A | |
| NG_032148.2:g.21762G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580299.2:c.2611G>A | ENSP00000462607.2:p.Val871Met | |
| ENST00000581729.2:c.2611G>A | ENSP00000462720.2:p.Val871Met | |
| ENST00000581967.2:n.3063G>A | ||
| ENST00000583254.2:n.3660G>A | ||
| ENST00000699849.1:c.1714G>A | ENSP00000514647.1:p.Val572Met | |
| ENST00000699850.1:n.1874G>A | ||
| ENST00000699851.1:n.2633G>A | ||
| ENST00000699852.1:c.*1287G>A | ENSP00000514648.1:n.*1287G>A | |
| ENST00000699853.1:c.2611G>A | ENSP00000514649.1:p.Val871Met | |
| ENST00000699854.1:n.2404G>A | ||
| ENST00000699855.1:n.3063G>A | ||
| ENST00000699856.1:c.2611G>A | ENSP00000514650.1:p.Val871Met | |
| ENST00000699857.1:n.2619G>A | ||
| ENST00000699858.1:c.*1224G>A | ENSP00000514651.1:n.*1224G>A | |
| ENST00000699859.1:c.2482G>A | ENSP00000514652.1:p.Val828Met | |
| ENST00000699860.1:n.581+392G>A | ||
| ENST00000699861.1:n.2633G>A | ||
| ENST00000699862.1:n.3571G>A | ||
| ENST00000449476.7:c.2506G>A | ENSP00000396018.2:p.Val836Met | |
| ENST00000581671.2:n.2600G>A | ||
| ENST00000643543.1:c.*1318G>A | ENSP00000494323.1:n.*1318G>A | |
| ENST00000651323.1:c.2611G>A MANE Select | ENSP00000498499.1:p.Val871Met | |
| ENST00000315684.12:c.2611G>A | ENSP00000313759.8:p.Val871Met | |
| ENST00000449476.6:c.2506G>A | ENSP00000396018.2:p.Val836Met | |
| ENST00000578240.1:n.839G>A | ||
| ENST00000578441.5:n.112G>A | ||
| ENST00000578537.1:c.371+392G>A | ||
| NM_025099.5:c.2611G>A | NP_079375.3:p.Val871Met | |
| NR_046431.1:n.2565G>A | ||
| XM_006721577.2:c.2482G>A | XP_006721640.1:p.Val828Met | |
| XM_006721578.2:c.2611G>A | XP_006721641.1:p.Val871Met | |
| XM_006721579.2:c.2611G>A | XP_006721642.1:p.Val871Met | |
| XM_011524010.1:c.2506G>A | XP_011522312.1:p.Val836Met | |
| XM_011524011.1:c.1714G>A | XP_011522313.1:p.Val572Met | |
| XR_429823.2:n.2654G>A | ||
| XR_429824.2:n.2654G>A | ||
| XR_429825.1:n.2518+392G>A | ||
| NM_025099.6:c.2611G>A MANE Select | NP_079375.3:p.Val871Met | |
| XM_006721577.3:c.2482G>A | XP_006721640.1:p.Val828Met | |
| XM_006721578.3:c.2611G>A | XP_006721641.1:p.Val871Met | |
| XM_011524010.2:c.2506G>A | XP_011522312.1:p.Val836Met | |
| XM_011524011.2:c.1714G>A | XP_011522313.1:p.Val572Met | |
| XR_001752639.1:n.2525G>A | ||
| XR_001752640.1:n.2654G>A | ||
| XR_001752641.1:n.2654G>A | ||
| XR_001752642.1:n.2518+392G>A | ||
| XR_001752643.1:n.3084G>A | ||
| XR_002958073.1:n.2518+392G>A | ||
| XR_429823.3:n.2654G>A | ||
| XR_429824.3:n.2654G>A | ||
| NR_046431.2:n.2526G>A |