Linked Data
ClinVar Variation Id:
188860
dbSNP Id:
rs761550284
ExAC:
14:88450831 C / T
gnomAD v2:
14-88450831-C-T
gnomAD v3:
14-87984487-C-T
gnomAD v4:
14-87984487-C-T
PubMed:
PMID:22115770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87984487C>T , CM000676.2:g.87984487C>T | GRCh38 |
| NC_000014.8:g.88450831C>T , CM000676.1:g.88450831C>T | GRCh37 |
| NC_000014.7:g.87520584C>T | NCBI36 |
| NG_011853.2:g.14077G>A | |
| NG_011853.3:g.14077G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.489G>A MANE Select | ENSP00000261304.2:p.Trp163Ter | |
| ENST00000261304.6:c.489G>A | ENSP00000261304.2:p.Trp163Ter | |
| ENST00000393568.8:c.420G>A | ENSP00000377198.4:p.Trp140Ter | |
| ENST00000393569.6:c.411G>A | ENSP00000377199.2:p.Trp137Ter | |
| ENST00000474294.6:n.479G>A | ||
| ENST00000544807.6:c.321G>A | ENSP00000437513.2:p.Trp107Ter | |
| ENST00000554372.5:c.*238G>A | ENSP00000451884.1:n.*238G>A | |
| ENST00000554916.5:n.368G>A | ||
| ENST00000556261.5:n.190G>A | ||
| ENST00000556879.5:c.549G>A | ENSP00000452208.1:n.549G>A | |
| ENST00000557316.5:c.489G>A | ENSP00000452314.1:p.Trp163Ter | |
| ENST00000622264.4:c.479G>A | ||
| NM_000153.3:c.489G>A | NP_000144.2:p.Trp163Ter | |
| NM_001201401.1:c.420G>A | NP_001188330.1:p.Trp140Ter | |
| NM_001201402.1:c.411G>A | NP_001188331.1:p.Trp137Ter | |
| XM_011536618.1:c.321G>A | XP_011534920.1:p.Trp107Ter | |
| XM_011536618.2:c.321G>A | XP_011534920.1:p.Trp107Ter | |
| NM_000153.4:c.489G>A MANE Select | NP_000144.2:p.Trp163Ter | |
| NM_001201401.2:c.420G>A | NP_001188330.1:p.Trp140Ter | |
| NM_001201402.2:c.411G>A | NP_001188331.1:p.Trp137Ter |