Linked Data
ClinVar Variation Id:
49537
dbSNP Id:
rs137854084
ExAC:
16:2134267 C / T
gnomAD v2:
16-2134267-C-T
gnomAD v3:
16-2084266-C-T
gnomAD v4:
16-2084266-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084266C>T , CM000678.2:g.2084266C>T | GRCh38 |
| NC_000016.9:g.2134267C>T , CM000678.1:g.2134267C>T | GRCh37 |
| NC_000016.8:g.2074268C>T | NCBI36 |
| NG_005895.1:g.39961C>T , LRG_487:g.39961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2393C>T | ENSP00000455997.2:n.*2393C>T | |
| ENST00000642206.2:c.3891C>T | ENSP00000495146.2:p.His1297= | |
| ENST00000642365.2:c.4041C>T | ENSP00000495459.2:p.His1347= | |
| ENST00000644417.2:c.*4424C>T | ENSP00000493912.2:n.*4424C>T | |
| ENST00000646464.2:c.*6793C>T | ENSP00000496610.2:n.*6793C>T | |
| ENST00000219476.9:c.4044C>T MANE Select | ENSP00000219476.3:p.His1348= | |
| ENST00000350773.9:c.3975C>T | ENSP00000344383.4:p.His1325= | |
| ENST00000401874.7:c.3843C>T | ENSP00000384468.2:p.His1281= | |
| ENST00000568454.6:c.3876C>T | ENSP00000454487.1:p.His1292= | |
| ENST00000569110.2:c.280C>T | ||
| ENST00000569930.2:n.1926C>T | ||
| ENST00000642365.1:c.2698C>T | ||
| ENST00000642561.1:c.3915C>T | ENSP00000495099.1:p.His1305= | |
| ENST00000642728.1:n.226C>T | ||
| ENST00000642797.1:c.3846C>T | ENSP00000493846.1:p.His1282= | |
| ENST00000642936.1:c.3912C>T | ENSP00000494514.1:p.His1304= | |
| ENST00000643088.1:c.3843C>T | ENSP00000494747.1:p.His1281= | |
| ENST00000643177.1:n.58C>T | ||
| ENST00000643426.1:n.1692C>T | ||
| ENST00000643533.1:n.485C>T | ||
| ENST00000643946.1:c.3975C>T | ENSP00000495927.1:p.His1325= | |
| ENST00000644043.1:c.3915C>T | ENSP00000496262.1:p.His1305= | |
| ENST00000644329.1:c.3843C>T | ENSP00000496611.1:p.His1281= | |
| ENST00000644335.1:c.3846C>T | ENSP00000496317.1:p.His1282= | |
| ENST00000644399.1:c.3965C>T | ||
| ENST00000645024.1:n.2128C>T | ||
| ENST00000645186.1:c.287C>T | ||
| ENST00000646388.1:c.4044C>T | ENSP00000495921.1:p.His1348= | |
| ENST00000646634.1:n.2859C>T | ||
| ENST00000646674.1:n.1296C>T | ||
| ENST00000647042.1:n.1267C>T | ||
| ENST00000647180.1:n.1157C>T | ||
| ENST00000219476.7:c.4044C>T | ENSP00000219476.3:p.His1348= | |
| ENST00000350773.8:c.3975C>T | ENSP00000344383.4:p.His1325= | |
| ENST00000382538.10:c.3699C>T | ENSP00000371978.6:p.His1233= | |
| ENST00000401874.6:c.3843C>T | ENSP00000384468.2:p.His1281= | |
| ENST00000439117.6:c.*3211C>T | ENSP00000406980.2:n.*3211C>T | |
| ENST00000439673.6:c.3735C>T | ENSP00000399232.2:p.His1245= | |
| ENST00000497886.5:n.1802C>T | ||
| ENST00000568454.5:c.3876C>T | ENSP00000454487.1:p.His1292= | |
| ENST00000569110.1:c.226C>T | ||
| ENST00000569930.1:n.1159C>T | ||
| NM_000548.3:c.4044C>T , LRG_487t1:c.4044C>T | NP_000539.2:p.His1348= | |
| NM_001077183.1:c.3843C>T | NP_001070651.1:p.His1281= | |
| NM_001114382.1:c.3975C>T | NP_001107854.1:p.His1325= | |
| XM_005255529.3:c.3915C>T | XP_005255586.2:p.His1305= | |
| XM_005255531.3:c.3846C>T | XP_005255588.2:p.His1282= | |
| XM_011522636.1:c.4098C>T | XP_011520938.1:p.His1366= | |
| XM_011522637.1:c.4095C>T | XP_011520939.1:p.His1365= | |
| XM_011522638.1:c.3987C>T | XP_011520940.1:p.His1329= | |
| XM_011522639.1:c.3969C>T | XP_011520941.1:p.His1323= | |
| XM_011522640.1:c.3966C>T | XP_011520942.1:p.His1322= | |
| XM_011522641.1:c.3735C>T | XP_011520943.1:p.His1245= | |
| NM_000548.4:c.4044C>T | NP_000539.2:p.His1348= | |
| NM_001077183.2:c.3843C>T | NP_001070651.1:p.His1281= | |
| NM_001114382.2:c.3975C>T | NP_001107854.1:p.His1325= | |
| NM_001318827.1:c.3735C>T | NP_001305756.1:p.His1245= | |
| NM_001318829.1:c.3699C>T | NP_001305758.1:p.His1233= | |
| NM_001318831.1:c.3312C>T | NP_001305760.1:p.His1104= | |
| NM_001318832.1:c.3876C>T | NP_001305761.1:p.His1292= | |
| NM_001363528.1:c.3846C>T | NP_001350457.1:p.His1282= | |
| NM_021055.2:c.3915C>T | NP_066399.2:p.His1305= | |
| XM_005255531.4:c.3846C>T | XP_005255588.2:p.His1282= | |
| XM_011522636.2:c.4098C>T | XP_011520938.1:p.His1366= | |
| XM_011522637.2:c.4095C>T | XP_011520939.1:p.His1365= | |
| XM_011522638.2:c.4260C>T | XP_011520940.2:p.His1420= | |
| XM_011522639.2:c.3969C>T | XP_011520941.1:p.His1323= | |
| XM_011522640.2:c.3966C>T | XP_011520942.1:p.His1322= | |
| XM_017023615.1:c.4041C>T | XP_016879104.1:p.His1347= | |
| XM_017023616.1:c.3912C>T | XP_016879105.1:p.His1304= | |
| XM_017023617.1:c.4008C>T | XP_016879106.1:p.His1336= | |
| XM_017023618.1:c.2754C>T | XP_016879107.1:p.His918= | |
| XM_024450413.1:c.3843C>T | XP_024306181.1:p.His1281= | |
| NM_000548.5:c.4044C>T MANE Select | NP_000539.2:p.His1348= | |
| NM_001370404.1:c.3912C>T | NP_001357333.1:p.His1304= | |
| NM_001370405.1:c.3915C>T | NP_001357334.1:p.His1305= | |
| NM_001077183.3:c.3843C>T | NP_001070651.1:p.His1281= | |
| NM_001114382.3:c.3975C>T | NP_001107854.1:p.His1325= | |
| NM_001318827.2:c.3735C>T | NP_001305756.1:p.His1245= | |
| NM_001318829.2:c.3699C>T | NP_001305758.1:p.His1233= | |
| NM_001318831.2:c.3312C>T | NP_001305760.1:p.His1104= | |
| NM_001318832.2:c.3876C>T | NP_001305761.1:p.His1292= | |
| NM_001363528.2:c.3846C>T | NP_001350457.1:p.His1282= | |
| NM_021055.3:c.3915C>T | NP_066399.2:p.His1305= |