Linked Data
ClinVar Variation Id:
56181
ClinVar RCV Id:
RCV000049592
dbSNP Id:
rs386833633
gnomAD v4:
1-40092469-T-A
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092469T>A , CM000663.2:g.40092469T>A | GRCh38 |
| NC_000001.10:g.40558141T>A , CM000663.1:g.40558141T>A | GRCh37 |
| NC_000001.9:g.40330728T>A | NCBI36 |
| NG_009192.1:g.10002A>T , LRG_690:g.10002A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.167A>T | ENSP00000361865.5:p.Ter56Leu | |
| ENST00000433473.8:c.160A>T | ENSP00000394863.4:p.Lys54Ter | |
| ENST00000439754.6:c.163A>T | ENSP00000403207.2:p.Lys55Ter | |
| ENST00000449045.7:c.125-2957A>T | ENSP00000392293.2:n.125-2957A>T | |
| ENST00000526547.2:c.443A>T | ||
| ENST00000527311.7:c.163A>T | ENSP00000436695.3:p.Lys55Ter | |
| ENST00000530704.6:c.163A>T | ENSP00000431655.1:p.Lys55Ter | |
| ENST00000641083.1:c.141A>T | ||
| ENST00000641236.1:n.175A>T | ||
| ENST00000641319.1:c.163A>T | ENSP00000493128.1:p.Lys55Ter | |
| ENST00000641471.1:c.250A>T | ENSP00000493146.1:p.Lys84Ter | |
| ENST00000641548.1:c.*15A>T | ENSP00000492984.1:n.*15A>T | |
| ENST00000641691.1:c.*15A>T | ENSP00000492910.1:n.*15A>T | |
| ENST00000641924.1:c.124+4646A>T | ENSP00000493063.1:n.124+4646A>T | |
| ENST00000642050.2:c.163A>T MANE Select | ENSP00000493153.1:p.Lys55Ter | |
| ENST00000372779.8:c.250A>T | ENSP00000361865.4:p.Lys84Ter | |
| ENST00000433473.7:c.163A>T | ENSP00000394863.3:p.Lys55Ter | |
| ENST00000449045.6:c.125-2957A>T | ENSP00000392293.2:n.125-2957A>T | |
| ENST00000526547.1:c.13A>T | ENSP00000436481.1:p.Lys5Ter | |
| ENST00000527311.6:c.125-412A>T | ENSP00000436695.2:n.125-412A>T | |
| ENST00000529905.5:c.163A>T | ENSP00000432053.1:p.Lys55Ter | |
| ENST00000530704.5:c.163A>T | ENSP00000431655.1:p.Lys55Ter | |
| NM_000310.3:c.163A>T , LRG_690t1:c.163A>T | NP_000301.1:p.Lys55Ter | |
| NM_001142604.1:c.125-2957A>T | NP_001136076.1:n.125-2957A>T | |
| XM_005271008.1:c.163A>T | XP_005271065.1:p.Lys55Ter | |
| NM_001363695.1:c.163A>T | NP_001350624.1:p.Lys55Ter | |
| NM_000310.4:c.163A>T MANE Select | NP_000301.1:p.Lys55Ter | |
| NM_001142604.2:c.125-2957A>T | NP_001136076.1:n.125-2957A>T | |
| NM_001363695.2:c.163A>T | NP_001350624.1:p.Lys55Ter |