Linked Data
ClinVar Variation Id:
260728
dbSNP Id:
rs2274223
ExAC:
10:96066341 A / G
gnomAD v2:
10-96066341-A-G
gnomAD v3:
10-94306584-A-G
gnomAD v4:
10-94306584-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94306584A>G , CM000672.2:g.94306584A>G | GRCh38 |
| NC_000010.10:g.96066341A>G , CM000672.1:g.96066341A>G | GRCh37 |
| NC_000010.9:g.96056331A>G | NCBI36 |
| NG_015799.1:g.317596A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4856A>G | ENSP00000360426.1:p.His1619Arg | |
| ENST00000685253.1:c.*2323A>G | ENSP00000509405.1:n.*2323A>G | |
| ENST00000685889.1:n.2515A>G | ||
| ENST00000686807.1:n.1199A>G | ||
| ENST00000686954.1:c.*1064A>G | ENSP00000508416.1:n.*1064A>G | |
| ENST00000688810.1:c.4808A>G | ENSP00000509140.1:p.His1603Arg | |
| ENST00000689233.1:n.9988A>G | ||
| ENST00000690340.1:n.3453A>G | ||
| ENST00000692286.1:c.5648A>G | ENSP00000509490.1:p.His1883Arg | |
| ENST00000692396.1:c.5732A>G | ENSP00000508605.1:p.His1911Arg | |
| ENST00000371380.8:c.5780A>G MANE Select | ENSP00000360431.2:p.His1927Arg | |
| ENST00000371385.8:c.4754A>G | ENSP00000360438.4:p.His1585Arg | |
| ENST00000674738.1:c.4335A>G | ||
| ENST00000674827.1:c.3896A>G | ENSP00000502523.1:p.His1299Arg | |
| ENST00000675218.1:c.4856A>G | ENSP00000501910.1:p.His1619Arg | |
| ENST00000675487.1:c.*1713A>G | ENSP00000502340.1:n.*1713A>G | |
| ENST00000675718.1:c.5049A>G | ||
| ENST00000260766.7:c.5780A>G | ENSP00000260766.3:p.His1927Arg | |
| ENST00000371375.1:c.4856A>G | ENSP00000360426.1:p.His1619Arg | |
| ENST00000371380.7:c.5780A>G | ENSP00000360431.2:p.His1927Arg | |
| ENST00000371385.7:c.4856A>G | ENSP00000360438.3:p.His1619Arg | |
| NM_001165979.2:c.4856A>G | NP_001159451.1:p.His1619Arg | |
| NM_001288989.1:c.5732A>G | NP_001275918.1:p.His1911Arg | |
| NM_016341.3:c.5780A>G | NP_057425.3:p.His1927Arg | |
| XM_006717885.2:c.5822A>G | XP_006717948.1:p.His1941Arg | |
| XM_006717886.2:c.5822A>G | XP_006717949.1:p.His1941Arg | |
| XM_006717888.2:c.5819A>G | XP_006717951.1:p.His1940Arg | |
| XM_006717889.2:c.5774A>G | XP_006717952.1:p.His1925Arg | |
| XM_006717890.1:c.4898A>G | XP_006717953.1:p.His1633Arg | |
| XM_011539849.1:c.5822A>G | XP_011538151.1:p.His1941Arg | |
| XM_011539850.1:c.4667A>G | XP_011538152.1:p.His1556Arg | |
| XM_006717885.4:c.5822A>G | XP_006717948.1:p.His1941Arg | |
| XM_006717888.4:c.5819A>G | XP_006717951.1:p.His1940Arg | |
| XM_006717889.4:c.5774A>G | XP_006717952.1:p.His1925Arg | |
| XM_006717890.3:c.4898A>G | XP_006717953.1:p.His1633Arg | |
| XM_011539849.3:c.5822A>G | XP_011538151.1:p.His1941Arg | |
| XM_011539850.3:c.4667A>G | XP_011538152.1:p.His1556Arg | |
| XM_017016310.2:c.5822A>G | XP_016871799.1:p.His1941Arg | |
| XM_017016311.2:c.5822A>G | XP_016871800.1:p.His1941Arg | |
| XM_017016312.2:c.4808A>G | XP_016871801.1:p.His1603Arg | |
| NM_001288989.2:c.5732A>G | NP_001275918.1:p.His1911Arg | |
| NM_016341.4:c.5780A>G MANE Select | NP_057425.3:p.His1927Arg |