Linked Data
ClinVar Variation Id:
56205
ClinVar RCV Id:
RCV000049616
dbSNP Id:
rs386833656
ExAC:
1:40546138 C / T
gnomAD v2:
1-40546138-C-T
gnomAD v4:
1-40080466-C-T
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080466C>T , CM000663.2:g.40080466C>T | GRCh38 |
| NC_000001.10:g.40546138C>T , CM000663.1:g.40546138C>T | GRCh37 |
| NC_000001.9:g.40318725C>T | NCBI36 |
| NG_009192.1:g.22005G>A , LRG_690:g.22005G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*394G>A | ENSP00000361865.5:n.*394G>A | |
| ENST00000433473.8:c.555G>A | ENSP00000394863.4:p.Trp185Ter | |
| ENST00000439754.6:c.558G>A | ENSP00000403207.2:p.Trp186Ter | |
| ENST00000449045.7:c.249G>A | ENSP00000392293.2:p.Trp83Ter | |
| ENST00000527311.7:c.327G>A | ENSP00000436695.3:p.Trp109Ter | |
| ENST00000530076.6:c.-100G>A | ENSP00000434007.1:n.-100G>A | |
| ENST00000530704.6:c.*181G>A | ENSP00000431655.1:n.*181G>A | |
| ENST00000641083.1:c.536G>A | ||
| ENST00000641236.1:n.795G>A | ||
| ENST00000641319.1:c.558G>A | ENSP00000493128.1:p.Trp186Ter | |
| ENST00000641381.1:c.149-3553G>A | ||
| ENST00000641471.1:c.645G>A | ENSP00000493146.1:p.Trp215Ter | |
| ENST00000641691.1:c.*410G>A | ENSP00000492910.1:n.*410G>A | |
| ENST00000641924.1:c.146G>A | ENSP00000493063.1:p.Gly49Asp | |
| ENST00000642050.2:c.558G>A MANE Select | ENSP00000493153.1:p.Trp186Ter | |
| ENST00000372779.8:c.645G>A | ENSP00000361865.4:p.Trp215Ter | |
| ENST00000433473.7:c.558G>A | ENSP00000394863.3:p.Trp186Ter | |
| ENST00000439754.5:c.243G>A | ENSP00000403207.1:p.Trp81Ter | |
| ENST00000449045.6:c.249G>A | ENSP00000392293.2:p.Trp83Ter | |
| ENST00000527311.6:c.333G>A | ENSP00000436695.2:p.Trp111Ter | |
| ENST00000529905.5:c.558G>A | ENSP00000432053.1:p.Trp186Ter | |
| ENST00000530076.5:c.-100G>A | ENSP00000434007.1:n.-100G>A | |
| ENST00000530704.5:c.*181G>A | ENSP00000431655.1:n.*181G>A | |
| NM_000310.3:c.558G>A , LRG_690t1:c.558G>A | NP_000301.1:p.Trp186Ter | |
| NM_001142604.1:c.249G>A | NP_001136076.1:p.Trp83Ter | |
| XM_005271008.1:c.558G>A | XP_005271065.1:p.Trp186Ter | |
| NM_001363695.1:c.558G>A | NP_001350624.1:p.Trp186Ter | |
| NM_000310.4:c.558G>A MANE Select | NP_000301.1:p.Trp186Ter | |
| NM_001142604.2:c.249G>A | NP_001136076.1:p.Trp83Ter | |
| NM_001363695.2:c.558G>A | NP_001350624.1:p.Trp186Ter |