Linked Data
ClinVar Variation Id:
50793
dbSNP Id:
rs143739249
ExAC:
2:74058095 C / T
gnomAD v2:
2-74058095-C-T
gnomAD v3:
2-73830968-C-T
gnomAD v4:
2-73830968-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73830968C>T , CM000664.2:g.73830968C>T | GRCh38 |
| NC_000002.11:g.74058095C>T , CM000664.1:g.74058095C>T | GRCh37 |
| NC_000002.10:g.73911603C>T | NCBI36 |
| NG_033223.1:g.7053C>T | |
| NG_033223.2:g.7058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394073.6:c.112C>T | ENSP00000377636.1:p.Arg38Cys | |
| ENST00000409707.6:c.112C>T | ENSP00000386548.1:p.Arg38Cys | |
| ENST00000424659.6:c.112C>T | ENSP00000390921.2:p.Arg38Cys | |
| ENST00000432295.7:c.112C>T | ENSP00000413874.3:p.Arg38Cys | |
| ENST00000452725.6:n.607C>T | ||
| ENST00000478946.2:c.112C>T | ENSP00000508259.1:p.Arg38Cys | |
| ENST00000536064.2:c.112C>T | ENSP00000443502.2:p.Arg38Cys | |
| ENST00000682105.1:c.112C>T | ENSP00000507182.1:p.Arg38Cys | |
| ENST00000682157.1:c.112C>T | ENSP00000507848.1:p.Arg38Cys | |
| ENST00000682329.1:n.181C>T | ||
| ENST00000682351.1:c.112C>T | ENSP00000506833.1:p.Arg38Cys | |
| ENST00000682352.1:c.112C>T | ENSP00000508197.1:p.Arg38Cys | |
| ENST00000682379.1:c.112C>T | ENSP00000507081.1:p.Arg38Cys | |
| ENST00000682387.1:c.112C>T | ENSP00000508186.1:p.Arg38Cys | |
| ENST00000682423.1:c.112C>T | ENSP00000507643.1:p.Arg38Cys | |
| ENST00000682558.1:c.112C>T | ENSP00000507014.1:p.Arg38Cys | |
| ENST00000682592.1:c.112C>T | ENSP00000508170.1:p.Arg38Cys | |
| ENST00000682683.1:n.181C>T | ||
| ENST00000682747.1:n.607C>T | ||
| ENST00000682784.1:c.112C>T | ENSP00000507523.1:p.Arg38Cys | |
| ENST00000682799.1:c.112C>T | ENSP00000507089.1:p.Arg38Cys | |
| ENST00000682847.1:c.112C>T | ENSP00000507864.1:p.Arg38Cys | |
| ENST00000682848.1:c.112C>T | ENSP00000506775.1:p.Arg38Cys | |
| ENST00000682851.1:c.-203+1972C>T | ENSP00000507371.1:n.-203+1972C>T | |
| ENST00000682998.1:c.112C>T | ENSP00000507046.1:p.Arg38Cys | |
| ENST00000683016.1:c.112C>T | ENSP00000508373.1:p.Arg38Cys | |
| ENST00000683027.1:n.314C>T | ||
| ENST00000683036.1:c.112C>T | ENSP00000507639.1:p.Arg38Cys | |
| ENST00000683149.1:c.112C>T | ENSP00000507540.1:p.Arg38Cys | |
| ENST00000683205.1:n.646C>T | ||
| ENST00000683247.1:c.112C>T | ENSP00000507237.1:p.Arg38Cys | |
| ENST00000683304.1:c.112C>T | ENSP00000508114.1:p.Arg38Cys | |
| ENST00000683317.1:c.112C>T | ENSP00000507092.1:p.Arg38Cys | |
| ENST00000683349.1:c.112C>T | ENSP00000507807.1:p.Arg38Cys | |
| ENST00000683391.1:c.112C>T | ENSP00000506772.1:p.Arg38Cys | |
| ENST00000683417.1:c.112C>T | ENSP00000507770.1:p.Arg38Cys | |
| ENST00000683434.1:c.112C>T | ENSP00000507622.1:p.Arg38Cys | |
| ENST00000683465.1:n.657C>T | ||
| ENST00000683518.1:c.112C>T | ENSP00000506865.1:p.Arg38Cys | |
| ENST00000683530.1:c.112C>T | ENSP00000506920.1:p.Arg38Cys | |
| ENST00000683582.1:c.112C>T | ENSP00000506892.1:p.Arg38Cys | |
| ENST00000683594.1:c.112C>T | ENSP00000507459.1:p.Arg38Cys | |
| ENST00000683718.1:c.112C>T | ENSP00000507037.1:p.Arg38Cys | |
| ENST00000683728.1:c.112C>T | ENSP00000507079.1:p.Arg38Cys | |
| ENST00000683818.1:c.112C>T | ENSP00000507658.1:p.Arg38Cys | |
| ENST00000683852.1:c.112C>T | ENSP00000507717.1:p.Arg38Cys | |
| ENST00000683877.1:c.112C>T | ENSP00000507446.1:p.Arg38Cys | |
| ENST00000683902.1:c.112C>T | ENSP00000507096.1:p.Arg38Cys | |
| ENST00000683928.1:c.112C>T | ENSP00000507241.1:p.Arg38Cys | |
| ENST00000684095.1:c.112C>T | ENSP00000506845.1:p.Arg38Cys | |
| ENST00000684174.1:n.652C>T | ||
| ENST00000684200.1:c.112C>T | ENSP00000507468.1:p.Arg38Cys | |
| ENST00000684312.1:c.112C>T | ENSP00000506958.1:p.Arg38Cys | |
| ENST00000684321.1:c.112C>T | ENSP00000507156.1:p.Arg38Cys | |
| ENST00000684337.1:c.112C>T | ENSP00000508310.1:p.Arg38Cys | |
| ENST00000684355.1:c.112C>T | ENSP00000507974.1:p.Arg38Cys | |
| ENST00000684426.1:c.112C>T | ENSP00000507614.1:p.Arg38Cys | |
| ENST00000684585.1:c.112C>T | ENSP00000507054.1:p.Arg38Cys | |
| ENST00000684671.1:c.112C>T | ENSP00000507882.1:p.Arg38Cys | |
| ENST00000684697.1:c.112C>T | ENSP00000506855.1:p.Arg38Cys | |
| ENST00000684703.1:c.112C>T | ENSP00000507569.1:p.Arg38Cys | |
| ENST00000684716.1:c.112C>T | ENSP00000508172.1:p.Arg38Cys | |
| ENST00000684758.1:c.112C>T | ENSP00000507279.1:p.Arg38Cys | |
| ENST00000684774.1:c.112C>T | ENSP00000508267.1:p.Arg38Cys | |
| ENST00000394070.7:c.112C>T MANE Select | ENSP00000377633.2:p.Arg38Cys | |
| ENST00000339566.7:c.112C>T | ENSP00000344742.3:p.Arg38Cys | |
| ENST00000394070.6:c.112C>T | ENSP00000377633.2:p.Arg38Cys | |
| ENST00000394073.5:c.112C>T | ENSP00000377636.1:p.Arg38Cys | |
| ENST00000409707.5:c.112C>T | ENSP00000386548.1:p.Arg38Cys | |
| ENST00000424659.5:c.112C>T | ENSP00000390921.1:p.Arg38Cys | |
| ENST00000432295.6:c.112C>T | ENSP00000413874.2:p.Arg38Cys | |
| ENST00000452725.5:c.112C>T | ENSP00000413291.1:p.Arg38Cys | |
| ENST00000536064.1:c.112C>T | ENSP00000443502.1:p.Arg38Cys | |
| NM_006463.4:c.112C>T | NP_006454.1:p.Arg38Cys | |
| NM_201647.2:c.112C>T | NP_964010.1:p.Arg38Cys | |
| NM_213622.2:c.112C>T | NP_998787.1:p.Arg38Cys | |
| XM_005264088.2:c.112C>T | XP_005264145.1:p.Arg38Cys | |
| XM_011532483.1:c.112C>T | XP_011530785.1:p.Arg38Cys | |
| XM_011532484.1:c.112C>T | XP_011530786.1:p.Arg38Cys | |
| XM_011532485.1:c.112C>T | XP_011530787.1:p.Arg38Cys | |
| XR_939651.1:n.230C>T | ||
| NM_001353967.1:c.112C>T | NP_001340896.1:p.Arg38Cys | |
| NM_001353968.1:c.112C>T | NP_001340897.1:p.Arg38Cys | |
| NM_001353969.1:c.112C>T | NP_001340898.1:p.Arg38Cys | |
| NM_001353970.1:c.112C>T | NP_001340899.1:p.Arg38Cys | |
| NM_001353971.1:c.-442C>T | NP_001340900.1:n.-442C>T | |
| NM_001353972.1:c.-203+1972C>T | NP_001340901.1:n.-203+1972C>T | |
| NM_001353973.1:c.-442C>T | NP_001340902.1:n.-442C>T | |
| NM_001353974.1:c.-442C>T | NP_001340903.1:n.-442C>T | |
| NM_001353975.1:c.-442C>T | NP_001340904.1:n.-442C>T | |
| NM_001353976.1:c.-442C>T | NP_001340905.1:n.-442C>T | |
| NM_006463.5:c.112C>T | NP_006454.1:p.Arg38Cys | |
| NM_201647.3:c.112C>T | NP_964010.1:p.Arg38Cys | |
| NM_213622.3:c.112C>T | NP_998787.1:p.Arg38Cys | |
| NR_148668.1:n.210C>T | ||
| NR_148669.1:n.210C>T | ||
| NR_148670.1:n.334C>T | ||
| NR_148671.1:n.668C>T | ||
| XM_011532483.3:c.112C>T | XP_011530785.1:p.Arg38Cys | |
| XM_011532485.3:c.112C>T | XP_011530787.1:p.Arg38Cys | |
| XM_024452533.1:c.112C>T | XP_024308301.1:p.Arg38Cys | |
| XM_024452534.1:c.-203+1972C>T | XP_024308302.1:n.-203+1972C>T | |
| NM_213622.4:c.112C>T MANE Select | NP_998787.1:p.Arg38Cys | |
| NR_148668.2:n.160C>T | ||
| NR_148669.2:n.160C>T | ||
| NR_148670.2:n.340C>T | ||
| NR_148671.2:n.674C>T | ||
| NM_001353967.2:c.112C>T | NP_001340896.1:p.Arg38Cys | |
| NM_001353968.2:c.112C>T | NP_001340897.1:p.Arg38Cys | |
| NM_001353969.2:c.112C>T | NP_001340898.1:p.Arg38Cys | |
| NM_001353970.2:c.112C>T | NP_001340899.1:p.Arg38Cys | |
| NM_001353971.2:c.-442C>T | NP_001340900.1:n.-442C>T | |
| NM_001353972.2:c.-203+1972C>T | NP_001340901.1:n.-203+1972C>T | |
| NM_001353973.2:c.-442C>T | NP_001340902.1:n.-442C>T | |
| NM_001353974.2:c.-442C>T | NP_001340903.1:n.-442C>T | |
| NM_001353975.2:c.-442C>T | NP_001340904.1:n.-442C>T | |
| NM_001353976.2:c.-442C>T | NP_001340905.1:n.-442C>T | |
| NM_006463.6:c.112C>T | NP_006454.1:p.Arg38Cys | |
| NM_201647.4:c.112C>T | NP_964010.1:p.Arg38Cys |