Linked Data
ClinVar Variation Id:
144011
dbSNP Id:
rs587777635
gnomAD v4:
21-42486455-C-T
PubMed:
PMID:24518672
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42486455C>T , CM000683.2:g.42486455C>T | GRCh38 |
| NC_000021.8:g.43906565C>T , CM000683.1:g.43906565C>T | GRCh37 |
| NC_000021.7:g.42779634C>T | NCBI36 |
| NG_034257.1:g.14900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291536.8:c.281G>A MANE Select | ENSP00000291536.3:p.Trp94Ter | |
| ENST00000291536.7:c.281G>A | ENSP00000291536.3:p.Trp94Ter | |
| ENST00000398352.3:c.167G>A | ENSP00000381395.3:p.Trp56Ter | |
| ENST00000493019.1:n.341G>A | ||
| NM_001286506.1:c.167G>A | NP_001273435.1:p.Trp56Ter | |
| NM_080860.3:c.281G>A | NP_543136.1:p.Trp94Ter | |
| XM_005261208.1:c.74G>A | XP_005261265.1:p.Trp25Ter | |
| XM_011529786.1:c.281G>A | XP_011528088.1:p.Trp94Ter | |
| XM_005261208.2:c.74G>A | XP_005261265.1:p.Trp25Ter | |
| NM_080860.4:c.281G>A MANE Select | NP_543136.1:p.Trp94Ter | |
| NM_001286506.2:c.167G>A | NP_001273435.1:p.Trp56Ter |