Linked Data
dbSNP Id:
rs757139411
ExAC:
9:131303442 G / A
gnomAD v2:
9-131303442-G-A
gnomAD v3:
9-128541163-G-A
gnomAD v4:
9-128541163-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541163G>A , CM000671.2:g.128541163G>A | GRCh38 |
| NC_000009.11:g.131303442G>A , CM000671.1:g.131303442G>A | GRCh37 |
| NC_000009.10:g.130343263G>A | NCBI36 |
| NG_012073.1:g.41472G>A , LRG_484:g.41472G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1161G>A | ENSP00000507095.1:n.*1161G>A | |
| ENST00000683288.1:c.*2089G>A | ENSP00000507477.1:n.*2089G>A | |
| ENST00000683748.1:c.2117G>A | ENSP00000507377.1:p.Arg706His | |
| ENST00000683905.1:c.*766G>A | ENSP00000506960.1:n.*766G>A | |
| ENST00000684139.1:c.1625G>A | ENSP00000507295.1:p.Arg542His | |
| ENST00000684210.1:n.1803G>A | ||
| ENST00000684314.1:c.1985G>A | ENSP00000507700.1:p.Arg662His | |
| ENST00000684331.1:c.*810G>A | ENSP00000507431.1:n.*810G>A | |
| ENST00000684463.1:n.728G>A | ||
| ENST00000684646.1:c.1877G>A | ENSP00000507723.1:p.Arg626His | |
| ENST00000309971.9:c.2090G>A MANE Select | ENSP00000308622.5:p.Arg697His | |
| ENST00000309971.8:c.2090G>A | ENSP00000308622.4:p.Arg697His | |
| NM_001003722.1:c.2090G>A , LRG_484t1:c.2090G>A | NP_001003722.1:p.Arg697His | |
| XM_006717059.2:c.2126G>A | XP_006717122.1:p.Arg709His | |
| XM_006717060.2:c.2099G>A | XP_006717123.1:p.Arg700His | |
| XM_011518549.1:c.2126G>A | XP_011516851.1:p.Arg709His | |
| XM_011518550.1:c.2126G>A | XP_011516852.1:p.Arg709His | |
| XM_011518551.1:c.2117G>A | XP_011516853.1:p.Arg706His | |
| XM_011518552.1:c.1367G>A | XP_011516854.1:p.Arg456His | |
| XR_242681.3:n.100+2216C>T | ||
| XM_006717059.3:c.2126G>A | XP_006717122.1:p.Arg709His | |
| XM_006717060.3:c.2099G>A | XP_006717123.1:p.Arg700His | |
| XM_011518551.2:c.2117G>A | XP_011516853.1:p.Arg706His | |
| XM_024447519.1:c.2099G>A | XP_024303287.1:p.Arg700His | |
| NM_001003722.2:c.2090G>A MANE Select | NP_001003722.1:p.Arg697His |