Linked Data
ClinVar Variation Id:
56219
ClinVar RCV Id:
RCV001753468
dbSNP Id:
rs386833670
ExAC:
1:40539766 C / T
gnomAD v2:
1-40539766-C-T
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074094C>T , CM000663.2:g.40074094C>T | GRCh38 |
| NC_000001.10:g.40539766C>T , CM000663.1:g.40539766C>T | GRCh37 |
| NC_000001.9:g.40312353C>T | NCBI36 |
| NG_009192.1:g.28377G>A , LRG_690:g.28377G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433473.8:c.885G>A | ENSP00000394863.4:p.Trp295Ter | |
| ENST00000439754.6:c.816G>A | ENSP00000403207.2:p.Trp272Ter | |
| ENST00000449045.7:c.579G>A | ENSP00000392293.2:p.Trp193Ter | |
| ENST00000530076.6:c.231G>A | ENSP00000434007.1:p.Trp77Ter | |
| ENST00000530704.6:c.*511G>A | ENSP00000431655.1:n.*511G>A | |
| ENST00000641083.1:c.978G>A | ||
| ENST00000641236.1:n.1125G>A | ||
| ENST00000641319.1:c.*98G>A | ENSP00000493128.1:n.*98G>A | |
| ENST00000641381.1:c.310G>A | ||
| ENST00000641471.1:c.975G>A | ENSP00000493146.1:p.Trp325Ter | |
| ENST00000641691.1:c.*740G>A | ENSP00000492910.1:n.*740G>A | |
| ENST00000641924.1:c.*317G>A | ENSP00000493063.1:n.*317G>A | |
| ENST00000642050.2:c.888G>A MANE Select | ENSP00000493153.1:p.Trp296Ter | |
| ENST00000372775.2:n.285G>A | ||
| ENST00000433473.7:c.888G>A | ENSP00000394863.3:p.Trp296Ter | |
| ENST00000439754.5:c.501G>A | ENSP00000403207.1:p.Trp167Ter | |
| ENST00000449045.6:c.579G>A | ENSP00000392293.2:p.Trp193Ter | |
| ENST00000529905.5:c.888G>A | ENSP00000432053.1:p.Trp296Ter | |
| ENST00000530076.5:c.231G>A | ENSP00000434007.1:p.Trp77Ter | |
| ENST00000530704.5:c.*511G>A | ENSP00000431655.1:n.*511G>A | |
| NM_000310.3:c.888G>A , LRG_690t1:c.888G>A | NP_000301.1:p.Trp296Ter | |
| NM_001142604.1:c.579G>A | NP_001136076.1:p.Trp193Ter | |
| XM_005271008.1:c.816G>A | XP_005271065.1:p.Trp272Ter | |
| NM_001363695.1:c.816G>A | NP_001350624.1:p.Trp272Ter | |
| NM_000310.4:c.888G>A MANE Select | NP_000301.1:p.Trp296Ter | |
| NM_001142604.2:c.579G>A | NP_001136076.1:p.Trp193Ter | |
| NM_001363695.2:c.816G>A | NP_001350624.1:p.Trp272Ter |