Linked Data
ClinVar Variation Id:
379359
ClinVar RCV Id:
RCV000429177
dbSNP Id:
rs1057520585
COSMIC:
COSM5347142
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26731191C>T , CM000663.2:g.26731191C>T | GRCh38 |
| NC_000001.10:g.27057682C>T , CM000663.1:g.27057682C>T | GRCh37 |
| NC_000001.9:g.26930269C>T | NCBI36 |
| NG_029965.1:g.40161C>T , LRG_875:g.40161C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324856.13:c.1390C>T MANE Select | ENSP00000320485.7:p.Gln464Ter | |
| ENST00000374152.7:c.241C>T | ENSP00000363267.2:p.Gln81Ter | |
| ENST00000430799.7:c.241C>T | ENSP00000390317.3:p.Gln81Ter | |
| ENST00000636219.1:c.247C>T | ENSP00000489842.1:p.Gln83Ter | |
| ENST00000637465.1:c.241C>T | ENSP00000490650.1:p.Gln81Ter | |
| ENST00000324856.11:c.1390C>T | ENSP00000320485.7:p.Gln464Ter | |
| ENST00000374152.6:c.241C>T | ENSP00000363267.2:p.Gln81Ter | |
| ENST00000457599.6:c.1390C>T | ENSP00000387636.2:p.Gln464Ter | |
| ENST00000524572.1:c.241C>T | ENSP00000432473.1:p.Gln81Ter | |
| ENST00000615191.4:c.241C>T | ENSP00000478955.1:p.Gln81Ter | |
| NM_006015.4:c.1390C>T , LRG_875t1:c.1390C>T | NP_006006.3:p.Gln464Ter | |
| NM_139135.2:c.1390C>T | NP_624361.1:p.Gln464Ter | |
| NM_006015.5:c.1390C>T | NP_006006.3:p.Gln464Ter | |
| NM_139135.3:c.1390C>T | NP_624361.1:p.Gln464Ter | |
| NM_006015.6:c.1390C>T MANE Select | NP_006006.3:p.Gln464Ter | |
| NM_139135.4:c.1390C>T | NP_624361.1:p.Gln464Ter |