Linked Data
ClinVar Variation Id:
294526
ClinVar RCV Id:
RCV000276556
dbSNP Id:
rs121913051
ExAC:
1:196716390 C / T
gnomAD v2:
1-196716390-C-T
gnomAD v4:
1-196747260-C-T
COSMIC:
COSM901548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747260C>T , CM000663.2:g.196747260C>T | GRCh38 |
| NC_000001.10:g.196716390C>T , CM000663.1:g.196716390C>T | GRCh37 |
| NC_000001.9:g.194983013C>T | NCBI36 |
| NG_007259.1:g.100250C>T , LRG_47:g.100250C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4671C>T | ||
| ENST00000695970.1:c.3469C>T | ENSP00000512297.1:p.Arg1157Ter | |
| ENST00000695971.1:c.3622C>T | ENSP00000512298.1:p.Arg1208Ter | |
| ENST00000695972.1:c.*720C>T | ENSP00000512299.1:n.*720C>T | |
| ENST00000695973.1:c.*2007C>T | ENSP00000512300.1:n.*2007C>T | |
| ENST00000695974.1:c.3466C>T | ENSP00000512301.1:p.Arg1156Ter | |
| ENST00000695975.1:c.*1770C>T | ENSP00000512302.1:n.*1770C>T | |
| ENST00000695976.1:c.3454C>T | ENSP00000512303.1:p.Arg1152Ter | |
| ENST00000695981.1:c.3580+63C>T | ENSP00000512306.1:n.3580+63C>T | |
| ENST00000695984.1:c.1651C>T | ENSP00000512309.1:p.Arg551Ter | |
| ENST00000695986.1:c.*3294C>T | ENSP00000512311.1:n.*3294C>T | |
| ENST00000695990.1:n.677C>T | ||
| ENST00000696026.1:c.*1925C>T | ENSP00000512335.1:n.*1925C>T | |
| ENST00000696027.1:c.3637C>T | ENSP00000512336.1:p.Arg1213Ter | |
| ENST00000696028.1:c.3571C>T | ENSP00000512337.1:p.Arg1191Ter | |
| ENST00000696029.1:c.3637C>T | ENSP00000512338.1:p.Arg1213Ter | |
| ENST00000696031.1:c.*3161C>T | ENSP00000512340.1:n.*3161C>T | |
| ENST00000696032.1:c.3580+63C>T | ENSP00000512341.1:n.3580+63C>T | |
| ENST00000696033.1:c.1160-32537C>T | ENSP00000512342.1:n.1160-32537C>T | |
| ENST00000367429.9:c.3643C>T MANE Select | ENSP00000356399.4:p.Arg1215Ter | |
| ENST00000367429.8:c.3643C>T | ENSP00000356399.4:p.Arg1215Ter | |
| ENST00000466229.5:n.6741C>T | ||
| NM_000186.3:c.3643C>T , LRG_47t1:c.3643C>T | NP_000177.2:p.Arg1215Ter | |
| XR_001737134.2:n.3829C>T | ||
| NM_000186.4:c.3643C>T MANE Select | NP_000177.2:p.Arg1215Ter |