Linked Data
dbSNP Id:
rs373607060
ExAC:
10:96058268 G / A
gnomAD v2:
10-96058268-G-A
gnomAD v3:
10-94298511-G-A
gnomAD v4:
10-94298511-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298511G>A , CM000672.2:g.94298511G>A | GRCh38 |
| NC_000010.10:g.96058268G>A , CM000672.1:g.96058268G>A | GRCh37 |
| NC_000010.9:g.96048258G>A | NCBI36 |
| NG_015799.1:g.309523G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4376G>A | ENSP00000360426.1:p.Arg1459His | |
| ENST00000685253.1:c.*1843G>A | ENSP00000509405.1:n.*1843G>A | |
| ENST00000685889.1:n.2035G>A | ||
| ENST00000686807.1:n.719G>A | ||
| ENST00000686954.1:c.*584G>A | ENSP00000508416.1:n.*584G>A | |
| ENST00000688810.1:c.4328G>A | ENSP00000509140.1:p.Arg1443His | |
| ENST00000689233.1:n.9508G>A | ||
| ENST00000690340.1:n.2973G>A | ||
| ENST00000692286.1:c.5168G>A | ENSP00000509490.1:p.Arg1723His | |
| ENST00000692396.1:c.5252G>A | ENSP00000508605.1:p.Arg1751His | |
| ENST00000371380.8:c.5300G>A MANE Select | ENSP00000360431.2:p.Arg1767His | |
| ENST00000371385.8:c.4274G>A | ENSP00000360438.4:p.Arg1425His | |
| ENST00000674738.1:c.3855G>A | ||
| ENST00000674827.1:c.3416G>A | ENSP00000502523.1:p.Arg1139His | |
| ENST00000675218.1:c.4376G>A | ENSP00000501910.1:p.Arg1459His | |
| ENST00000675487.1:c.*1233G>A | ENSP00000502340.1:n.*1233G>A | |
| ENST00000675718.1:c.4569G>A | ||
| ENST00000260766.7:c.5300G>A | ENSP00000260766.3:p.Arg1767His | |
| ENST00000371375.1:c.4376G>A | ENSP00000360426.1:p.Arg1459His | |
| ENST00000371380.7:c.5300G>A | ENSP00000360431.2:p.Arg1767His | |
| ENST00000371385.7:c.4376G>A | ENSP00000360438.3:p.Arg1459His | |
| NM_001165979.2:c.4376G>A | NP_001159451.1:p.Arg1459His | |
| NM_001288989.1:c.5252G>A | NP_001275918.1:p.Arg1751His | |
| NM_016341.3:c.5300G>A | NP_057425.3:p.Arg1767His | |
| XM_006717885.2:c.5342G>A | XP_006717948.1:p.Arg1781His | |
| XM_006717886.2:c.5342G>A | XP_006717949.1:p.Arg1781His | |
| XM_006717888.2:c.5339G>A | XP_006717951.1:p.Arg1780His | |
| XM_006717889.2:c.5294G>A | XP_006717952.1:p.Arg1765His | |
| XM_006717890.1:c.4418G>A | XP_006717953.1:p.Arg1473His | |
| XM_011539849.1:c.5342G>A | XP_011538151.1:p.Arg1781His | |
| XM_011539850.1:c.4187G>A | XP_011538152.1:p.Arg1396His | |
| XM_006717885.4:c.5342G>A | XP_006717948.1:p.Arg1781His | |
| XM_006717888.4:c.5339G>A | XP_006717951.1:p.Arg1780His | |
| XM_006717889.4:c.5294G>A | XP_006717952.1:p.Arg1765His | |
| XM_006717890.3:c.4418G>A | XP_006717953.1:p.Arg1473His | |
| XM_011539849.3:c.5342G>A | XP_011538151.1:p.Arg1781His | |
| XM_011539850.3:c.4187G>A | XP_011538152.1:p.Arg1396His | |
| XM_017016310.2:c.5342G>A | XP_016871799.1:p.Arg1781His | |
| XM_017016311.2:c.5342G>A | XP_016871800.1:p.Arg1781His | |
| XM_017016312.2:c.4328G>A | XP_016871801.1:p.Arg1443His | |
| NM_001288989.2:c.5252G>A | NP_001275918.1:p.Arg1751His | |
| NM_016341.4:c.5300G>A MANE Select | NP_057425.3:p.Arg1767His |