Linked Data
ClinVar Variation Id:
56203
ClinVar RCV Id:
RCV000049614
dbSNP Id:
rs386833654
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080480G>A , CM000663.2:g.40080480G>A | GRCh38 |
| NC_000001.10:g.40546152G>A , CM000663.1:g.40546152G>A | GRCh37 |
| NC_000001.9:g.40318739G>A | NCBI36 |
| NG_009192.1:g.21991C>T , LRG_690:g.21991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*380C>T | ENSP00000361865.5:n.*380C>T | |
| ENST00000433473.8:c.541C>T | ENSP00000394863.4:p.Gln181Ter | |
| ENST00000439754.6:c.544C>T | ENSP00000403207.2:p.Gln182Ter | |
| ENST00000449045.7:c.235C>T | ENSP00000392293.2:p.Gln79Ter | |
| ENST00000527311.7:c.313C>T | ENSP00000436695.3:p.Gln105Ter | |
| ENST00000530076.6:c.-114C>T | ENSP00000434007.1:n.-114C>T | |
| ENST00000530704.6:c.*167C>T | ENSP00000431655.1:n.*167C>T | |
| ENST00000641083.1:c.522C>T | ||
| ENST00000641236.1:n.781C>T | ||
| ENST00000641319.1:c.544C>T | ENSP00000493128.1:p.Gln182Ter | |
| ENST00000641381.1:c.149-3567C>T | ||
| ENST00000641471.1:c.631C>T | ENSP00000493146.1:p.Gln211Ter | |
| ENST00000641691.1:c.*396C>T | ENSP00000492910.1:n.*396C>T | |
| ENST00000641924.1:c.132C>T | ENSP00000493063.1:p.Cys44= | |
| ENST00000642050.2:c.544C>T MANE Select | ENSP00000493153.1:p.Gln182Ter | |
| ENST00000372779.8:c.631C>T | ENSP00000361865.4:p.Gln211Ter | |
| ENST00000433473.7:c.544C>T | ENSP00000394863.3:p.Gln182Ter | |
| ENST00000439754.5:c.229C>T | ENSP00000403207.1:p.Gln77Ter | |
| ENST00000449045.6:c.235C>T | ENSP00000392293.2:p.Gln79Ter | |
| ENST00000527311.6:c.319C>T | ENSP00000436695.2:p.Gln107Ter | |
| ENST00000529905.5:c.544C>T | ENSP00000432053.1:p.Gln182Ter | |
| ENST00000530076.5:c.-114C>T | ENSP00000434007.1:n.-114C>T | |
| ENST00000530704.5:c.*167C>T | ENSP00000431655.1:n.*167C>T | |
| NM_000310.3:c.544C>T , LRG_690t1:c.544C>T | NP_000301.1:p.Gln182Ter | |
| NM_001142604.1:c.235C>T | NP_001136076.1:p.Gln79Ter | |
| XM_005271008.1:c.544C>T | XP_005271065.1:p.Gln182Ter | |
| NM_001363695.1:c.544C>T | NP_001350624.1:p.Gln182Ter | |
| NM_000310.4:c.544C>T MANE Select | NP_000301.1:p.Gln182Ter | |
| NM_001142604.2:c.235C>T | NP_001136076.1:p.Gln79Ter | |
| NM_001363695.2:c.544C>T | NP_001350624.1:p.Gln182Ter |