Linked Data
ClinVar Variation Id:
222032
ClinVar RCV Id:
RCV000207508
dbSNP Id:
rs869025336
gnomAD v2:
13-80911486-G-A
gnomAD v3:
13-80337351-G-A
gnomAD v4:
13-80337351-G-A
PubMed:
PMID:25782674
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.80337351G>A , CM000675.2:g.80337351G>A | GRCh38 |
| NC_000013.10:g.80911486G>A , CM000675.1:g.80911486G>A | GRCh37 |
| NC_000013.9:g.79809487G>A | NCBI36 |
| NG_050650.1:g.8765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377104.4:c.355C>T MANE Select | ENSP00000366308.3:p.Arg119Trp | |
| ENST00000377102.5:c.355C>T | ENSP00000366306.1:p.Arg119Trp | |
| ENST00000377104.3:c.355C>T | ENSP00000366308.3:p.Arg119Trp | |
| ENST00000540649.2:c.355C>T | ENSP00000439027.2:p.Arg119Trp | |
| NM_005842.2:c.355C>T | NP_005833.1:p.Arg119Trp | |
| XM_005266217.1:c.355C>T | XP_005266274.1:p.Arg119Trp | |
| XM_006719753.1:c.355C>T | XP_006719816.1:p.Arg119Trp | |
| XM_011534867.1:c.355C>T | XP_011533169.1:p.Arg119Trp | |
| NM_001318536.1:c.355C>T | NP_001305465.1:p.Arg119Trp | |
| NM_001318537.1:c.355C>T | NP_001305466.1:p.Arg119Trp | |
| NM_001318538.1:c.355C>T | NP_001305467.1:p.Arg119Trp | |
| NM_005842.3:c.355C>T | NP_005833.1:p.Arg119Trp | |
| NM_005842.4:c.355C>T MANE Select | NP_005833.1:p.Arg119Trp |