Linked Data
ClinVar Variation Id:
8178
dbSNP Id:
rs121909293
ExAC:
1:15772212 C / T
gnomAD v2:
1-15772212-C-T
gnomAD v3:
1-15445717-C-T
gnomAD v4:
1-15445717-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445717C>T , CM000663.2:g.15445717C>T | GRCh38 |
| NC_000001.10:g.15772212C>T , CM000663.1:g.15772212C>T | GRCh37 |
| NC_000001.9:g.15644799C>T | NCBI36 |
| NG_009253.1:g.12275C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375949.5:c.760C>T MANE Select | ENSP00000365116.4:p.Arg254Trp | |
| ENST00000375943.6:c.*214C>T | ENSP00000365110.2:n.*214C>T | |
| ENST00000375949.4:c.760C>T | ENSP00000365116.4:p.Arg254Trp | |
| ENST00000483406.1:n.524C>T | ||
| NM_007272.2:c.760C>T | NP_009203.2:p.Arg254Trp | |
| XM_011540550.1:c.614C>T | XP_011538852.1:p.Pro205Leu | |
| NM_007272.3:c.760C>T MANE Select | NP_009203.2:p.Arg254Trp |