Linked Data
ClinVar Variation Id:
21748
dbSNP Id:
rs80338696
ExAC:
15:43022830 G / A
gnomAD v2:
15-43022830-G-A
gnomAD v3:
15-42730632-G-A
gnomAD v4:
15-42730632-G-A
COSMIC:
COSM4054744
PubMed:
PMID:20301759
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42730632G>A , CM000677.2:g.42730632G>A | GRCh38 |
| NC_000015.9:g.43022830G>A , CM000677.1:g.43022830G>A | GRCh37 |
| NC_000015.8:g.40810122G>A | NCBI36 |
| NG_012491.1:g.11588C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356231.4:c.2140C>T MANE Select | ENSP00000348564.3:p.Arg714Trp | |
| ENST00000643434.1:c.*1318C>T | ENSP00000494699.1:n.*1318C>T | |
| ENST00000356231.3:c.2140C>T | ENSP00000348564.3:p.Arg714Trp | |
| ENST00000562465.5:c.133C>T | ENSP00000454246.1:p.Arg45Trp | |
| NM_138477.2:c.2140C>T | NP_612486.2:p.Arg714Trp | |
| XM_005254176.3:c.2143C>T | XP_005254233.1:p.Arg715Trp | |
| XM_011521270.1:c.2167C>T | XP_011519572.1:p.Arg723Trp | |
| XM_011521271.1:c.2164C>T | XP_011519573.1:p.Arg722Trp | |
| XM_011521272.1:c.2167C>T | XP_011519574.1:p.Arg723Trp | |
| XM_011521273.1:c.2167C>T | XP_011519575.1:p.Arg723Trp | |
| XM_011521274.1:c.1132C>T | XP_011519576.1:p.Arg378Trp | |
| XM_011521275.1:c.1384C>T | XP_011519577.1:p.Arg462Trp | |
| XR_931757.1:n.2140C>T | ||
| NM_138477.4:c.2140C>T MANE Select | NP_612486.2:p.Arg714Trp | |
| XM_005254176.5:c.2143C>T | XP_005254233.1:p.Arg715Trp | |
| XM_011521270.2:c.2167C>T | XP_011519572.1:p.Arg723Trp | |
| XM_011521271.2:c.2164C>T | XP_011519573.1:p.Arg722Trp | |
| XM_011521274.2:c.1132C>T | XP_011519576.1:p.Arg378Trp | |
| XR_001751104.1:n.2197C>T | ||
| XR_001751105.1:n.2197C>T | ||
| XR_931757.2:n.2160C>T |