Linked Data
ClinVar Variation Id:
1426592
ClinVar RCV Id:
RCV001929498
dbSNP Id:
rs200225686
ExAC:
1:64095103 G / A
gnomAD v2:
1-64095103-G-A
gnomAD v3:
1-63629432-G-A
gnomAD v4:
1-63629432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63629432G>A , CM000663.2:g.63629432G>A | GRCh38 |
| NC_000001.10:g.64095103G>A , CM000663.1:g.64095103G>A | GRCh37 |
| NC_000001.9:g.63867691G>A | NCBI36 |
| NG_016966.1:g.41157G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.254G>A MANE Select | ENSP00000360125.3:p.Arg85His | |
| ENST00000650546.1:c.254G>A | ENSP00000497812.1:p.Arg85His | |
| ENST00000371083.4:c.308G>A | ENSP00000360124.4:p.Arg103His | |
| ENST00000371084.7:c.254G>A | ENSP00000360125.3:p.Arg85His | |
| ENST00000540265.5:c.-338G>A | ENSP00000443449.1:n.-338G>A | |
| NM_001172818.1:c.308G>A | NP_001166289.1:p.Arg103His | |
| NM_001172819.1:c.-338G>A | NP_001166290.1:n.-338G>A | |
| NM_002633.2:c.254G>A | NP_002624.2:p.Arg85His | |
| NM_002633.3:c.254G>A MANE Select | NP_002624.2:p.Arg85His | |
| NM_001172819.2:c.-338G>A | NP_001166290.1:n.-338G>A |