Linked Data
ClinVar Variation Id:
16558
ClinVar RCV Id:
RCV000022540
RCV001536004
RCV001099303
RCV001099304
RCV001328126
RCV001508947
RCV002293983
RCV000018025
RCV000018026
dbSNP Id:
rs121913059
ExAC:
1:196716375 C / T
gnomAD v2:
1-196716375-C-T
gnomAD v3:
1-196747245-C-T
gnomAD v4:
1-196747245-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747245C>T , CM000663.2:g.196747245C>T | GRCh38 |
| NC_000001.10:g.196716375C>T , CM000663.1:g.196716375C>T | GRCh37 |
| NC_000001.9:g.194982998C>T | NCBI36 |
| NG_007259.1:g.100235C>T , LRG_47:g.100235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4656C>T | ||
| ENST00000695970.1:c.3454C>T | ENSP00000512297.1:p.Arg1152Cys | |
| ENST00000695971.1:c.3607C>T | ENSP00000512298.1:p.Arg1203Cys | |
| ENST00000695972.1:c.*705C>T | ENSP00000512299.1:n.*705C>T | |
| ENST00000695973.1:c.*1992C>T | ENSP00000512300.1:n.*1992C>T | |
| ENST00000695974.1:c.3451C>T | ENSP00000512301.1:p.Arg1151Cys | |
| ENST00000695975.1:c.*1755C>T | ENSP00000512302.1:n.*1755C>T | |
| ENST00000695976.1:c.3439C>T | ENSP00000512303.1:p.Arg1147Cys | |
| ENST00000695981.1:c.3580+48C>T | ENSP00000512306.1:n.3580+48C>T | |
| ENST00000695984.1:c.1636C>T | ENSP00000512309.1:p.Arg546Cys | |
| ENST00000695986.1:c.*3279C>T | ENSP00000512311.1:n.*3279C>T | |
| ENST00000695990.1:n.662C>T | ||
| ENST00000696026.1:c.*1910C>T | ENSP00000512335.1:n.*1910C>T | |
| ENST00000696027.1:c.3622C>T | ENSP00000512336.1:p.Arg1208Cys | |
| ENST00000696028.1:c.3556C>T | ENSP00000512337.1:p.Arg1186Cys | |
| ENST00000696029.1:c.3622C>T | ENSP00000512338.1:p.Arg1208Cys | |
| ENST00000696031.1:c.*3146C>T | ENSP00000512340.1:n.*3146C>T | |
| ENST00000696032.1:c.3580+48C>T | ENSP00000512341.1:n.3580+48C>T | |
| ENST00000696033.1:c.1160-32552C>T | ENSP00000512342.1:n.1160-32552C>T | |
| ENST00000367429.9:c.3628C>T MANE Select | ENSP00000356399.4:p.Arg1210Cys | |
| ENST00000367429.8:c.3628C>T | ENSP00000356399.4:p.Arg1210Cys | |
| ENST00000466229.5:n.6726C>T | ||
| NM_000186.3:c.3628C>T , LRG_47t1:c.3628C>T | NP_000177.2:p.Arg1210Cys | |
| XR_001737134.2:n.3814C>T | ||
| NM_000186.4:c.3628C>T MANE Select | NP_000177.2:p.Arg1210Cys |