Linked Data
dbSNP Id:
rs770404139
ExAC:
2:157182410 C / T
gnomAD v2:
2-157182410-C-T
gnomAD v3:
2-156325898-C-T
gnomAD v4:
2-156325898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156325898C>T , CM000664.2:g.156325898C>T | GRCh38 |
| NC_000002.11:g.157182410C>T , CM000664.1:g.157182410C>T | GRCh37 |
| NC_000002.10:g.156890656C>T | NCBI36 |
| NG_011821.1:g.11878G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700228.1:c.1439G>A | ENSP00000514865.1:p.Arg480His | |
| ENST00000700229.1:c.607G>A | ||
| ENST00000700230.1:c.1183G>A | ENSP00000514867.1:n.1183G>A | |
| ENST00000700231.1:c.1568G>A | ENSP00000514868.1:p.Arg523His | |
| ENST00000339562.9:c.1643G>A MANE Select | ENSP00000344479.4:p.Arg548His | |
| ENST00000675870.1:c.*154G>A | ENSP00000502739.1:n.*154G>A | |
| ENST00000339562.8:c.1643G>A | ENSP00000344479.4:p.Arg548His | |
| ENST00000409108.6:c.1539G>A | ENSP00000386993.2:p.Pro513= | |
| ENST00000409572.5:c.1643G>A | ENSP00000386747.1:p.Arg548His | |
| ENST00000417764.5:c.*154G>A | ENSP00000415632.1:n.*154G>A | |
| ENST00000417972.5:c.*154G>A | ENSP00000394671.1:n.*154G>A | |
| ENST00000426264.5:c.1454G>A | ENSP00000389986.1:p.Arg485His | |
| ENST00000429376.5:c.1350G>A | ENSP00000410952.1:p.Pro450= | |
| NM_006186.3:c.1643G>A | NP_006177.1:p.Arg548His | |
| XM_005246621.2:c.1676G>A | XP_005246678.1:p.Arg559His | |
| XM_005246622.2:c.1454G>A | XP_005246679.1:p.Arg485His | |
| XM_005246623.1:c.1454G>A | XP_005246680.1:p.Arg485His | |
| XM_006712553.2:c.1601G>A | XP_006712616.1:p.Arg534His | |
| XM_011511246.1:c.1572G>A | XP_011509548.1:p.Pro524= | |
| NM_173173.2:c.1454G>A | NP_775265.1:p.Arg485His | |
| XM_005246621.4:c.1676G>A | XP_005246678.1:p.Arg559His | |
| XM_006712553.4:c.1601G>A | XP_006712616.1:p.Arg534His | |
| XM_011511246.2:c.1572G>A | XP_011509548.1:p.Pro524= | |
| XM_017004219.2:c.1643G>A | XP_016859708.1:p.Arg548His | |
| XM_017004220.2:c.1568G>A | XP_016859709.1:p.Arg523His | |
| XR_001738751.2:n.1890G>A | ||
| XR_001738752.2:n.1712G>A | ||
| XR_427087.4:n.1769G>A | ||
| NM_006186.4:c.1643G>A MANE Select | NP_006177.1:p.Arg548His | |
| NM_173173.3:c.1454G>A | NP_775265.1:p.Arg485His |