Linked Data
ClinVar Variation Id:
502127
dbSNP Id:
rs199634446
ExAC:
1:47716837 G / A
gnomAD v2:
1-47716837-G-A
gnomAD v3:
1-47251165-G-A
gnomAD v4:
1-47251165-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.47251165G>A , CM000663.2:g.47251165G>A | GRCh38 |
| NC_000001.10:g.47716837G>A , CM000663.1:g.47716837G>A | GRCh37 |
| NC_000001.9:g.47489424G>A | NCBI36 |
| NG_012126.1:g.67983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337817.10:c.3697C>T | ENSP00000337367.6:p.Arg1233Cys | |
| ENST00000447475.7:c.3643C>T | ENSP00000411664.3:p.Arg1215Cys | |
| ENST00000682940.1:n.2388C>T | ||
| ENST00000682977.1:c.3697C>T | ENSP00000506981.1:p.Arg1233Cys | |
| ENST00000683977.1:c.2883C>T | ||
| ENST00000684618.1:n.2610C>T | ||
| ENST00000371877.8:c.3838C>T MANE Select | ENSP00000360944.3:p.Arg1280Cys | |
| ENST00000337817.9:c.3697C>T | ENSP00000337367.6:p.Arg1233Cys | |
| ENST00000360380.7:c.3835C>T | ENSP00000353544.3:p.Arg1279Cys | |
| ENST00000371877.7:c.3838C>T | ENSP00000360944.3:p.Arg1280Cys | |
| ENST00000396221.6:c.3784C>T | ENSP00000379523.2:p.Arg1262Cys | |
| NM_001048166.1:c.3838C>T MANE Select | NP_001041631.1:p.Arg1280Cys | |
| NM_001282936.1:c.3835C>T | NP_001269865.1:p.Arg1279Cys | |
| NM_001282937.1:c.3784C>T | NP_001269866.1:p.Arg1262Cys | |
| NM_001282938.1:c.3697C>T | NP_001269867.1:p.Arg1233Cys | |
| NM_001282939.1:c.3643C>T | NP_001269868.1:p.Arg1215Cys | |
| NM_003035.2:c.3835C>T | NP_003026.2:p.Arg1279Cys | |
| XM_006710834.2:c.3838C>T | XP_006710897.1:p.Arg1280Cys | |
| XM_011541991.1:c.3838C>T | XP_011540293.1:p.Arg1280Cys | |
| XM_011541992.1:c.3838C>T | XP_011540294.1:p.Arg1280Cys | |
| XM_011541993.1:c.3835C>T | XP_011540295.1:p.Arg1279Cys | |
| XM_011541994.1:c.3784C>T | XP_011540296.1:p.Arg1262Cys | |
| XM_011541995.1:c.3784C>T | XP_011540297.1:p.Arg1262Cys | |
| XM_011541996.1:c.3697C>T | XP_011540298.1:p.Arg1233Cys | |
| XM_011541997.1:c.3697C>T | XP_011540299.1:p.Arg1233Cys | |
| XM_011541998.1:c.3643C>T | XP_011540300.1:p.Arg1215Cys | |
| XM_011541999.1:c.3142C>T | XP_011540301.1:p.Arg1048Cys | |
| XM_011542000.1:c.3142C>T | XP_011540302.1:p.Arg1048Cys | |
| XM_006710834.3:c.3838C>T | XP_006710897.1:p.Arg1280Cys | |
| XM_011541991.2:c.3838C>T | XP_011540293.1:p.Arg1280Cys | |
| XM_011541992.2:c.3838C>T | XP_011540294.1:p.Arg1280Cys | |
| XM_011541994.2:c.3784C>T | XP_011540296.1:p.Arg1262Cys | |
| XM_011541996.2:c.3697C>T | XP_011540298.1:p.Arg1233Cys | |
| XM_011541998.2:c.3643C>T | XP_011540300.1:p.Arg1215Cys | |
| XM_011542001.2:c.*695C>T | XP_011540303.1:n.*695C>T | |
| XM_017002123.1:c.3694C>T | XP_016857612.1:p.Arg1232Cys | |
| XM_017002124.1:c.3127C>T | XP_016857613.1:p.Arg1043Cys | |
| XR_001737370.1:n.4112C>T | ||
| NM_001377417.1:c.3697C>T | NP_001364346.1:p.Arg1233Cys |