Linked Data
dbSNP Id:
rs867317000
gnomAD v2:
1-110171332-G-A
gnomAD v3:
1-109628710-G-A
gnomAD v4:
1-109628710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109628710G>A , CM000663.2:g.109628710G>A | GRCh38 |
| NC_000001.10:g.110171332G>A , CM000663.1:g.110171332G>A | GRCh37 |
| NC_000001.9:g.109972855G>A | NCBI36 |
| NG_034075.1:g.13898G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.1475G>A | ENSP00000256578.4:p.Arg492His | |
| ENST00000358729.9:c.1475G>A | ENSP00000351573.5:p.Arg492His | |
| ENST00000369840.7:c.1475G>A | ENSP00000358855.3:p.Arg492His | |
| ENST00000474459.6:n.2094G>A | ||
| ENST00000476688.3:c.1157G>A | ENSP00000437025.2:p.Arg386His | |
| ENST00000486282.7:n.2431G>A | ||
| ENST00000524975.2:n.1956G>A | ||
| ENST00000525415.2:n.1991G>A | ||
| ENST00000526301.6:n.1538G>A | ||
| ENST00000527846.7:n.1330G>A | ||
| ENST00000528667.7:c.1475G>A MANE Select | ENSP00000436541.2:p.Arg492His | |
| ENST00000531203.6:c.1283G>A | ENSP00000431975.2:p.Arg428His | |
| ENST00000531734.6:c.1394G>A | ENSP00000433739.2:p.Arg465His | |
| ENST00000652975.2:c.*1227G>A | ENSP00000499620.2:n.*1227G>A | |
| ENST00000654851.1:n.1317G>A | ||
| ENST00000655992.1:c.1283G>A | ENSP00000499740.1:p.Arg428His | |
| ENST00000659122.2:c.1407+215G>A | ENSP00000499621.2:n.1407+215G>A | |
| ENST00000663749.1:c.*1222G>A | ENSP00000499739.1:n.*1222G>A | |
| ENST00000667949.2:c.875G>A | ENSP00000499465.2:p.Arg292His | |
| ENST00000668421.1:c.*1416G>A | ENSP00000499362.1:n.*1416G>A | |
| ENST00000679379.1:c.*1227G>A | ENSP00000505528.1:n.*1227G>A | |
| ENST00000679593.1:c.1475G>A | ENSP00000505999.1:p.Arg492His | |
| ENST00000679880.1:n.2011G>A | ||
| ENST00000679892.1:c.*1243G>A | ENSP00000504882.1:n.*1243G>A | |
| ENST00000679981.1:c.*1489G>A | ENSP00000506422.1:n.*1489G>A | |
| ENST00000680132.1:c.*1425G>A | ENSP00000505950.1:n.*1425G>A | |
| ENST00000680148.1:c.*1227G>A | ENSP00000505994.1:n.*1227G>A | |
| ENST00000680170.1:n.2340G>A | ||
| ENST00000680192.1:n.2433G>A | ||
| ENST00000680519.1:n.1711G>A | ||
| ENST00000680531.1:c.*1222G>A | ENSP00000506332.1:n.*1222G>A | |
| ENST00000680820.1:c.*1227G>A | ENSP00000505735.1:n.*1227G>A | |
| ENST00000680832.1:c.*1575G>A | ENSP00000505774.1:n.*1575G>A | |
| ENST00000680929.1:c.*1164G>A | ENSP00000504916.1:n.*1164G>A | |
| ENST00000681108.1:c.*1245+215G>A | ENSP00000506701.1:n.*1245+215G>A | |
| ENST00000681121.1:c.*585G>A | ENSP00000506466.1:n.*585G>A | |
| ENST00000681132.1:c.*1241G>A | ENSP00000506195.1:n.*1241G>A | |
| ENST00000681181.1:c.*1460G>A | ENSP00000506038.1:n.*1460G>A | |
| ENST00000681218.1:c.*1748G>A | ENSP00000505976.1:n.*1748G>A | |
| ENST00000681246.1:c.*1131G>A | ENSP00000505534.1:n.*1131G>A | |
| ENST00000681496.1:c.*1748G>A | ENSP00000505948.1:n.*1748G>A | |
| ENST00000681834.1:n.1814G>A | ||
| ENST00000681862.1:c.*1601G>A | ENSP00000505537.1:n.*1601G>A | |
| ENST00000256578.7:c.1637G>A | ENSP00000256578.3:p.Arg546His | |
| ENST00000342115.8:c.1394G>A | ENSP00000345498.4:p.Arg465His | |
| ENST00000358729.8:c.1412G>A | ENSP00000351573.4:p.Arg471His | |
| ENST00000369840.6:c.1548G>A | ||
| ENST00000393688.7:c.1280G>A | ENSP00000377292.3:p.Arg427His | |
| ENST00000526301.5:n.1676G>A | ||
| ENST00000528454.5:c.1283G>A | ENSP00000437164.1:p.Arg428His | |
| ENST00000528667.5:c.1637G>A | ENSP00000436541.1:p.Arg546His | |
| ENST00000532851.1:n.185G>A | ||
| ENST00000533132.1:n.177G>A | ||
| NM_001257360.1:c.1637G>A | NP_001244289.1:p.Arg546His | |
| NM_001257361.1:c.1283G>A | NP_001244290.1:p.Arg428His | |
| NM_001308170.1:c.1412G>A | NP_001295099.1:p.Arg471His | |
| NM_004037.7:c.1637G>A | NP_004028.3:p.Arg546His | |
| NM_139156.3:c.1394G>A | NP_631895.1:p.Arg465His | |
| NM_203404.1:c.1280G>A | NP_981949.1:p.Arg427His | |
| XM_011541247.1:c.1850G>A | XP_011539549.1:p.Arg617His | |
| XM_011541248.1:c.1782+215G>A | XP_011539550.1:n.1782+215G>A | |
| XR_946607.1:n.1873G>A | ||
| XM_024446431.1:c.1412G>A | XP_024302199.1:p.Arg471His | |
| XM_024446432.1:c.1430+215G>A | XP_024302200.1:n.1430+215G>A | |
| XR_002956282.1:n.2048G>A | ||
| NM_001257360.2:c.1637G>A | NP_001244289.1:p.Arg546His | |
| NM_001368809.2:c.1475G>A MANE Select | NP_001355738.1:p.Arg492His | |
| NM_004037.9:c.1475G>A | NP_004028.4:p.Arg492His | |
| NM_001257361.2:c.1283G>A | NP_001244290.1:p.Arg428His | |
| NM_139156.4:c.1394G>A | NP_631895.1:p.Arg465His |