Linked Data
dbSNP Id:
rs1472812094
gnomAD v2:
10-96058346-G-A
gnomAD v3:
10-94298589-G-A
gnomAD v4:
10-94298589-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298589G>A , CM000672.2:g.94298589G>A | GRCh38 |
| NC_000010.10:g.96058346G>A , CM000672.1:g.96058346G>A | GRCh37 |
| NC_000010.9:g.96048336G>A | NCBI36 |
| NG_015799.1:g.309601G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4454G>A | ENSP00000360426.1:p.Arg1485His | |
| ENST00000685253.1:c.*1921G>A | ENSP00000509405.1:n.*1921G>A | |
| ENST00000685889.1:n.2113G>A | ||
| ENST00000686807.1:n.797G>A | ||
| ENST00000686954.1:c.*662G>A | ENSP00000508416.1:n.*662G>A | |
| ENST00000688810.1:c.4406G>A | ENSP00000509140.1:p.Arg1469His | |
| ENST00000689233.1:n.9586G>A | ||
| ENST00000690340.1:n.3051G>A | ||
| ENST00000692286.1:c.5246G>A | ENSP00000509490.1:p.Arg1749His | |
| ENST00000692396.1:c.5330G>A | ENSP00000508605.1:p.Arg1777His | |
| ENST00000371380.8:c.5378G>A MANE Select | ENSP00000360431.2:p.Arg1793His | |
| ENST00000371385.8:c.4352G>A | ENSP00000360438.4:p.Arg1451His | |
| ENST00000674738.1:c.3933G>A | ||
| ENST00000674827.1:c.3494G>A | ENSP00000502523.1:p.Arg1165His | |
| ENST00000675218.1:c.4454G>A | ENSP00000501910.1:p.Arg1485His | |
| ENST00000675487.1:c.*1311G>A | ENSP00000502340.1:n.*1311G>A | |
| ENST00000675718.1:c.4647G>A | ||
| ENST00000260766.7:c.5378G>A | ENSP00000260766.3:p.Arg1793His | |
| ENST00000371375.1:c.4454G>A | ENSP00000360426.1:p.Arg1485His | |
| ENST00000371380.7:c.5378G>A | ENSP00000360431.2:p.Arg1793His | |
| ENST00000371385.7:c.4454G>A | ENSP00000360438.3:p.Arg1485His | |
| NM_001165979.2:c.4454G>A | NP_001159451.1:p.Arg1485His | |
| NM_001288989.1:c.5330G>A | NP_001275918.1:p.Arg1777His | |
| NM_016341.3:c.5378G>A | NP_057425.3:p.Arg1793His | |
| XM_006717885.2:c.5420G>A | XP_006717948.1:p.Arg1807His | |
| XM_006717886.2:c.5420G>A | XP_006717949.1:p.Arg1807His | |
| XM_006717888.2:c.5417G>A | XP_006717951.1:p.Arg1806His | |
| XM_006717889.2:c.5372G>A | XP_006717952.1:p.Arg1791His | |
| XM_006717890.1:c.4496G>A | XP_006717953.1:p.Arg1499His | |
| XM_011539849.1:c.5420G>A | XP_011538151.1:p.Arg1807His | |
| XM_011539850.1:c.4265G>A | XP_011538152.1:p.Arg1422His | |
| XM_006717885.4:c.5420G>A | XP_006717948.1:p.Arg1807His | |
| XM_006717888.4:c.5417G>A | XP_006717951.1:p.Arg1806His | |
| XM_006717889.4:c.5372G>A | XP_006717952.1:p.Arg1791His | |
| XM_006717890.3:c.4496G>A | XP_006717953.1:p.Arg1499His | |
| XM_011539849.3:c.5420G>A | XP_011538151.1:p.Arg1807His | |
| XM_011539850.3:c.4265G>A | XP_011538152.1:p.Arg1422His | |
| XM_017016310.2:c.5420G>A | XP_016871799.1:p.Arg1807His | |
| XM_017016311.2:c.5420G>A | XP_016871800.1:p.Arg1807His | |
| XM_017016312.2:c.4406G>A | XP_016871801.1:p.Arg1469His | |
| NM_001288989.2:c.5330G>A | NP_001275918.1:p.Arg1777His | |
| NM_016341.4:c.5378G>A MANE Select | NP_057425.3:p.Arg1793His |