Linked Data
ClinVar Variation Id:
189252
ClinVar RCV Id:
RCV000169686
dbSNP Id:
rs749995448
gnomAD v4:
6-101676673-C-T
PubMed:
PMID:25039795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.101676673C>T , CM000668.2:g.101676673C>T | GRCh38 |
| NC_000006.11:g.102124548C>T , CM000668.1:g.102124548C>T | GRCh37 |
| NC_000006.10:g.102231241C>T | NCBI36 |
| NG_009224.2:g.282644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436862.2:c.592C>T | ENSP00000407140.2:p.Arg198Ter | |
| ENST00000681975.1:c.592C>T | ENSP00000508014.1:p.Arg198Ter | |
| ENST00000682052.1:n.977C>T | ||
| ENST00000682090.1:c.592C>T | ENSP00000508130.1:p.Arg198Ter | |
| ENST00000682115.1:c.592C>T | ENSP00000508069.1:p.Arg198Ter | |
| ENST00000682222.1:c.592C>T | ENSP00000506840.1:p.Arg198Ter | |
| ENST00000682716.1:n.977C>T | ||
| ENST00000682823.1:n.977C>T | ||
| ENST00000683208.1:c.592C>T | ENSP00000508151.1:p.Arg198Ter | |
| ENST00000683215.1:c.592C>T | ENSP00000507424.1:p.Arg198Ter | |
| ENST00000683747.1:n.977C>T | ||
| ENST00000683774.1:n.1233C>T | ||
| ENST00000683806.1:c.*619C>T | ENSP00000506783.1:n.*619C>T | |
| ENST00000683903.1:c.592C>T | ENSP00000507071.1:p.Arg198Ter | |
| ENST00000684027.1:c.592C>T | ENSP00000508056.1:p.Arg198Ter | |
| ENST00000684068.1:c.592C>T | ENSP00000508175.1:p.Arg198Ter | |
| ENST00000684279.1:n.977C>T | ||
| ENST00000684518.1:c.592C>T | ENSP00000507289.1:p.Arg198Ter | |
| ENST00000369134.9:c.592C>T MANE Select | ENSP00000358130.6:p.Arg198Ter | |
| ENST00000369137.8:c.*583C>T | ENSP00000358133.5:n.*583C>T | |
| ENST00000421544.6:c.592C>T | ENSP00000397026.1:p.Arg198Ter | |
| ENST00000318991.10:c.478C>T | ENSP00000313276.7:p.Arg160Ter | |
| ENST00000358361.7:c.592C>T | ENSP00000351128.3:p.Arg198Ter | |
| ENST00000369134.8:c.478C>T | ENSP00000358130.5:p.Arg160Ter | |
| ENST00000369137.7:c.478C>T | ENSP00000358133.4:p.Arg160Ter | |
| ENST00000369138.5:c.592C>T | ENSP00000358134.1:p.Arg198Ter | |
| ENST00000413795.5:c.592C>T | ENSP00000405596.1:p.Arg198Ter | |
| ENST00000421544.5:c.592C>T | ENSP00000397026.1:p.Arg198Ter | |
| NM_001166247.1:c.592C>T | NP_001159719.1:p.Arg198Ter | |
| NM_021956.4:c.592C>T | NP_068775.1:p.Arg198Ter | |
| NM_175768.3:c.592C>T | NP_786944.1:p.Arg198Ter | |
| XM_005266945.2:c.592C>T | XP_005267002.1:p.Arg198Ter | |
| XM_005266946.2:c.445C>T | XP_005267003.1:p.Arg149Ter | |
| XM_011535777.1:c.592C>T | XP_011534079.1:p.Arg198Ter | |
| XM_011535778.1:c.592C>T | XP_011534080.1:p.Arg198Ter | |
| XM_011535779.1:c.592C>T | XP_011534081.1:p.Arg198Ter | |
| XM_011535780.1:c.592C>T | XP_011534082.1:p.Arg198Ter | |
| XM_011535781.1:c.592C>T | XP_011534083.1:p.Arg198Ter | |
| XM_005266946.4:c.445C>T | XP_005267003.1:p.Arg149Ter | |
| XM_011535777.3:c.592C>T | XP_011534079.1:p.Arg198Ter | |
| XM_017010781.2:c.592C>T | XP_016866270.1:p.Arg198Ter | |
| XM_017010782.2:c.592C>T | XP_016866271.1:p.Arg198Ter | |
| XM_024446410.1:c.592C>T | XP_024302178.1:p.Arg198Ter | |
| XM_024446411.1:c.592C>T | XP_024302179.1:p.Arg198Ter | |
| XR_002956278.1:n.1015C>T | ||
| NM_021956.5:c.592C>T MANE Select | NP_068775.1:p.Arg198Ter |