Linked Data
ClinVar Variation Id:
38285
ClinVar RCV Id:
RCV000767304
dbSNP Id:
rs111033654
PubMed:
PMID:10408771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647169G>T , CM000671.2:g.34647169G>T | GRCh38 |
| NC_000009.11:g.34647166G>T , CM000671.1:g.34647166G>T | GRCh37 |
| NC_000009.10:g.34637166G>T | NCBI36 |
| NG_009029.1:g.5532G>T | |
| NG_009029.2:g.5581G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.163G>T | ENSP00000509954.1:p.Gly55Cys | |
| ENST00000378842.8:c.163G>T MANE Select | ENSP00000368119.4:p.Gly55Cys | |
| ENST00000378842.7:c.163G>T | ENSP00000368119.3:p.Gly55Cys | |
| ENST00000450095.6:c.-40G>T | ENSP00000401956.2:n.-40G>T | |
| ENST00000465543.6:n.502G>T | ||
| ENST00000468099.2:n.203G>T | ||
| ENST00000472111.5:n.204G>T | ||
| ENST00000473506.6:c.163G>T | ENSP00000432839.2:p.Gly55Cys | |
| ENST00000473529.5:n.210G>T | ||
| ENST00000485531.1:n.156G>T | ||
| ENST00000487381.5:n.189G>T | ||
| ENST00000489643.6:n.193G>T | ||
| ENST00000554085.5:c.163G>T | ENSP00000450419.1:p.Gly55Cys | |
| ENST00000554139.5:n.216G>T | ||
| ENST00000554330.5:n.160G>T | ||
| ENST00000554550.5:c.163G>T | ENSP00000451435.1:p.Gly55Cys | |
| ENST00000554638.5:n.187G>T | ||
| ENST00000554897.5:c.163G>T | ENSP00000450942.1:p.Gly55Cys | |
| ENST00000554944.5:n.193G>T | ||
| ENST00000555020.5:n.193G>T | ||
| ENST00000555086.5:n.167G>T | ||
| ENST00000555214.5:n.172G>T | ||
| ENST00000556157.1:n.270G>T | ||
| ENST00000556244.1:c.47G>T | ||
| ENST00000556278.1:c.163G>T | ENSP00000451792.1:p.Gly55Cys | |
| ENST00000556403.5:n.176G>T | ||
| ENST00000556494.5:n.195G>T | ||
| ENST00000557541.5:n.356G>T | ||
| ENST00000557706.5:n.277G>T | ||
| NM_000155.3:c.163G>T | NP_000146.2:p.Gly55Cys | |
| NM_001258332.1:c.-40G>T | NP_001245261.1:n.-40G>T | |
| NM_000155.4:c.163G>T MANE Select | NP_000146.2:p.Gly55Cys | |
| NM_001258332.2:c.-40G>T | NP_001245261.1:n.-40G>T |