Linked Data
ClinVar Variation Id:
381472
dbSNP Id:
rs137854288
ExAC:
16:2138571 G / A
gnomAD v2:
16-2138571-G-A
gnomAD v3:
16-2088570-G-A
gnomAD v4:
16-2088570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088570G>A , CM000678.2:g.2088570G>A | GRCh38 |
| NC_000016.9:g.2138571G>A , CM000678.1:g.2138571G>A | GRCh37 |
| NC_000016.8:g.2078572G>A | NCBI36 |
| NG_005895.1:g.44265G>A , LRG_487:g.44265G>A | |
| NG_008617.1:g.54651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3733G>A | ENSP00000455997.2:n.*3733G>A | |
| ENST00000642206.2:c.5231G>A | ENSP00000495146.2:p.Arg1744His | |
| ENST00000642365.2:c.5381G>A | ENSP00000495459.2:p.Arg1794His | |
| ENST00000644417.2:c.*5897G>A | ENSP00000493912.2:n.*5897G>A | |
| ENST00000646464.2:c.*8133G>A | ENSP00000496610.2:n.*8133G>A | |
| ENST00000219476.9:c.5384G>A MANE Select | ENSP00000219476.3:p.Arg1795His | |
| ENST00000350773.9:c.5315G>A | ENSP00000344383.4:p.Arg1772His | |
| ENST00000401874.7:c.5183G>A | ENSP00000384468.2:p.Arg1728His | |
| ENST00000568454.6:c.5216G>A | ENSP00000454487.1:p.Arg1739His | |
| ENST00000569110.2:c.1607G>A | ||
| ENST00000569930.2:n.3266G>A | ||
| ENST00000642365.1:c.4038G>A | ||
| ENST00000642561.1:c.5243G>A | ENSP00000495099.1:p.Arg1748His | |
| ENST00000642791.1:n.981G>A | ||
| ENST00000642797.1:c.5186G>A | ENSP00000493846.1:p.Arg1729His | |
| ENST00000642936.1:c.5252G>A | ENSP00000494514.1:p.Arg1751His | |
| ENST00000643088.1:c.5177G>A | ENSP00000494747.1:p.Arg1726His | |
| ENST00000643426.1:n.3032G>A | ||
| ENST00000643946.1:c.5309G>A | ENSP00000495927.1:p.Arg1770His | |
| ENST00000644043.1:c.5255G>A | ENSP00000496262.1:p.Arg1752His | |
| ENST00000644329.1:c.5270G>A | ENSP00000496611.1:p.Arg1757His | |
| ENST00000644335.1:c.5180G>A | ENSP00000496317.1:p.Arg1727His | |
| ENST00000644399.1:c.5305G>A | ||
| ENST00000645024.1:n.3468G>A | ||
| ENST00000646388.1:c.5378G>A | ENSP00000495921.1:p.Arg1793His | |
| ENST00000646634.1:n.4199G>A | ||
| ENST00000646674.1:n.2636G>A | ||
| ENST00000647042.1:n.2607G>A | ||
| ENST00000647180.1:n.2497G>A | ||
| ENST00000219476.7:c.5384G>A | ENSP00000219476.3:p.Arg1795His | |
| ENST00000350773.8:c.5315G>A | ENSP00000344383.4:p.Arg1772His | |
| ENST00000382538.10:c.5039G>A | ENSP00000371978.6:p.Arg1680His | |
| ENST00000401874.6:c.5183G>A | ENSP00000384468.2:p.Arg1728His | |
| ENST00000439117.6:c.*4551G>A | ENSP00000406980.2:n.*4551G>A | |
| ENST00000439673.6:c.5075G>A | ENSP00000399232.2:p.Arg1692His | |
| ENST00000497886.5:n.3107G>A | ||
| ENST00000568454.5:c.5216G>A | ENSP00000454487.1:p.Arg1739His | |
| ENST00000569110.1:c.1566G>A | ||
| ENST00000569930.1:n.2499G>A | ||
| NM_000548.3:c.5384G>A , LRG_487t1:c.5384G>A | NP_000539.2:p.Arg1795His | |
| NM_001077183.1:c.5183G>A | NP_001070651.1:p.Arg1728His | |
| NM_001114382.1:c.5315G>A | NP_001107854.1:p.Arg1772His | |
| XM_005255529.3:c.5255G>A | XP_005255586.2:p.Arg1752His | |
| XM_005255531.3:c.5186G>A | XP_005255588.2:p.Arg1729His | |
| XM_011522636.1:c.5438G>A | XP_011520938.1:p.Arg1813His | |
| XM_011522637.1:c.5435G>A | XP_011520939.1:p.Arg1812His | |
| XM_011522638.1:c.5327G>A | XP_011520940.1:p.Arg1776His | |
| XM_011522639.1:c.5309G>A | XP_011520941.1:p.Arg1770His | |
| XM_011522640.1:c.5306G>A | XP_011520942.1:p.Arg1769His | |
| XM_011522641.1:c.5075G>A | XP_011520943.1:p.Arg1692His | |
| NM_000548.4:c.5384G>A | NP_000539.2:p.Arg1795His | |
| NM_001077183.2:c.5183G>A | NP_001070651.1:p.Arg1728His | |
| NM_001114382.2:c.5315G>A | NP_001107854.1:p.Arg1772His | |
| NM_001318827.1:c.5075G>A | NP_001305756.1:p.Arg1692His | |
| NM_001318829.1:c.5039G>A | NP_001305758.1:p.Arg1680His | |
| NM_001318831.1:c.4652G>A | NP_001305760.1:p.Arg1551His | |
| NM_001318832.1:c.5216G>A | NP_001305761.1:p.Arg1739His | |
| NM_001363528.1:c.5186G>A | NP_001350457.1:p.Arg1729His | |
| NM_021055.2:c.5255G>A | NP_066399.2:p.Arg1752His | |
| XM_005255531.4:c.5186G>A | XP_005255588.2:p.Arg1729His | |
| XM_011522636.2:c.5438G>A | XP_011520938.1:p.Arg1813His | |
| XM_011522637.2:c.5435G>A | XP_011520939.1:p.Arg1812His | |
| XM_011522638.2:c.5600G>A | XP_011520940.2:p.Arg1867His | |
| XM_011522639.2:c.5309G>A | XP_011520941.1:p.Arg1770His | |
| XM_011522640.2:c.5306G>A | XP_011520942.1:p.Arg1769His | |
| XM_017023615.1:c.5381G>A | XP_016879104.1:p.Arg1794His | |
| XM_017023616.1:c.5252G>A | XP_016879105.1:p.Arg1751His | |
| XM_017023617.1:c.5348G>A | XP_016879106.1:p.Arg1783His | |
| XM_017023618.1:c.4094G>A | XP_016879107.1:p.Arg1365His | |
| XM_024450413.1:c.5270G>A | XP_024306181.1:p.Arg1757His | |
| NM_000548.5:c.5384G>A MANE Select | NP_000539.2:p.Arg1795His | |
| NM_001370404.1:c.5252G>A | NP_001357333.1:p.Arg1751His | |
| NM_001370405.1:c.5243G>A | NP_001357334.1:p.Arg1748His | |
| NM_001077183.3:c.5183G>A | NP_001070651.1:p.Arg1728His | |
| NM_001114382.3:c.5315G>A | NP_001107854.1:p.Arg1772His | |
| NM_001318827.2:c.5075G>A | NP_001305756.1:p.Arg1692His | |
| NM_001318829.2:c.5039G>A | NP_001305758.1:p.Arg1680His | |
| NM_001318831.2:c.4652G>A | NP_001305760.1:p.Arg1551His | |
| NM_001318832.2:c.5216G>A | NP_001305761.1:p.Arg1739His | |
| NM_001363528.2:c.5186G>A | NP_001350457.1:p.Arg1729His | |
| NM_021055.3:c.5255G>A | NP_066399.2:p.Arg1752His |