Linked Data
dbSNP Id:
rs761772837
ExAC:
3:121712058 C / T
gnomAD v2:
3-121712058-C-T
gnomAD v4:
3-121993211-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993211C>T , CM000665.2:g.121993211C>T | GRCh38 |
| NC_000003.11:g.121712058C>T , CM000665.1:g.121712058C>T | GRCh37 |
| NC_000003.10:g.123194748C>T | NCBI36 |
| NG_031870.1:g.34070G>A | |
| NG_031870.2:g.72344G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.1538G>A MANE Select | ENSP00000345667.5:p.Arg513His | |
| ENST00000460554.2:n.1488G>A | ||
| ENST00000642615.1:c.*721G>A | ENSP00000495499.1:n.*721G>A | |
| ENST00000273691.7:c.1406G>A | ENSP00000273691.3:p.Arg469His | |
| ENST00000344209.9:c.1538G>A | ENSP00000345667.5:p.Arg513His | |
| ENST00000393631.5:c.1271G>A | ENSP00000377251.1:p.Arg424His | |
| ENST00000460554.1:n.1640G>A | ||
| ENST00000462014.1:c.1442G>A | ENSP00000419414.1:p.Arg481His | |
| NM_001199799.1:c.1538G>A | NP_001186728.1:p.Arg513His | |
| NM_001199800.1:c.1271G>A | NP_001186729.1:p.Arg424His | |
| NM_175924.3:c.1406G>A | NP_787120.1:p.Arg469His | |
| XM_005247389.3:c.1442G>A | XP_005247446.1:p.Arg481His | |
| XM_011512738.1:c.1538G>A | XP_011511040.1:p.Arg513His | |
| XM_011512739.1:c.1001G>A | XP_011511041.1:p.Arg334His | |
| XM_005247389.4:c.1442G>A | XP_005247446.1:p.Arg481His | |
| XM_011512738.2:c.1538G>A | XP_011511040.1:p.Arg513His | |
| XM_011512739.2:c.1001G>A | XP_011511041.1:p.Arg334His | |
| NM_001199799.2:c.1538G>A MANE Select | NP_001186728.1:p.Arg513His | |
| NM_001199800.2:c.1271G>A | NP_001186729.1:p.Arg424His | |
| NM_175924.4:c.1406G>A | NP_787120.1:p.Arg469His |