Linked Data
ClinVar Variation Id:
2582241
ClinVar RCV Id:
RCV003332942
dbSNP Id:
rs2124113674
gnomAD v4:
1-26773701-C-T
COSMIC:
COSM5347125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26773701C>T , CM000663.2:g.26773701C>T | GRCh38 |
| NC_000001.10:g.27100192C>T , CM000663.1:g.27100192C>T | GRCh37 |
| NC_000001.9:g.26972779C>T | NCBI36 |
| NG_029965.1:g.82671C>T , LRG_875:g.82671C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.3988C>T MANE Select | ENSP00000320485.7:p.Gln1330Ter | |
| ENST00000374152.7:c.2839C>T | ENSP00000363267.2:p.Gln947Ter | |
| ENST00000430799.7:c.2836C>T | ENSP00000390317.3:p.Gln946Ter | |
| ENST00000466382.2:c.297C>T | ||
| ENST00000636072.1:n.381C>T | ||
| ENST00000636219.1:c.2842C>T | ENSP00000489842.1:p.Gln948Ter | |
| ENST00000636794.1:n.294C>T | ||
| ENST00000324856.11:c.3988C>T | ENSP00000320485.7:p.Gln1330Ter | |
| ENST00000374152.6:c.2839C>T | ENSP00000363267.2:p.Gln947Ter | |
| ENST00000430799.6:c.677C>T | ||
| ENST00000457599.6:c.3988C>T | ENSP00000387636.2:p.Gln1330Ter | |
| ENST00000466382.1:c.297C>T | ||
| ENST00000615191.4:c.2836C>T | ENSP00000478955.1:p.Gln946Ter | |
| NM_006015.4:c.3988C>T , LRG_875t1:c.3988C>T | NP_006006.3:p.Gln1330Ter | |
| NM_139135.2:c.3988C>T | NP_624361.1:p.Gln1330Ter | |
| NM_006015.5:c.3988C>T | NP_006006.3:p.Gln1330Ter | |
| NM_139135.3:c.3988C>T | NP_624361.1:p.Gln1330Ter | |
| NM_006015.6:c.3988C>T MANE Select | NP_006006.3:p.Gln1330Ter | |
| NM_139135.4:c.3988C>T | NP_624361.1:p.Gln1330Ter |