Linked Data
ClinVar Variation Id:
50911
ClinVar RCV Id:
RCV000043626
dbSNP Id:
rs398123027
ExAC:
6:35911730 G / A
gnomAD v2:
6-35911730-G-A
gnomAD v3:
6-35943953-G-A
gnomAD v4:
6-35943953-G-A
PubMed:
PMID:23582645
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35943953G>A , CM000668.2:g.35943953G>A | GRCh38 |
| NC_000006.11:g.35911730G>A , CM000668.1:g.35911730G>A | GRCh37 |
| NC_000006.10:g.36019708G>A | NCBI36 |
| NG_033897.1:g.85684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490799.6:c.2860C>T MANE Select | ENSP00000417638.1:p.Arg954Cys | |
| ENST00000355574.6:c.2860C>T | ENSP00000347778.2:p.Arg954Cys | |
| ENST00000394602.6:c.2545C>T | ENSP00000378100.2:p.Arg849Cys | |
| ENST00000465492.1:c.1846C>T | ||
| ENST00000466805.5:n.2441C>T | ||
| ENST00000490799.5:c.2860C>T | ENSP00000417638.1:p.Arg954Cys | |
| NM_001193476.1:c.2860C>T | NP_001180405.1:p.Arg954Cys | |
| NM_052961.3:c.2860C>T | NP_443193.1:p.Arg954Cys | |
| NM_138718.2:c.2545C>T | NP_619732.2:p.Arg849Cys | |
| XM_011514294.1:c.2782C>T | XP_011512596.1:p.Arg928Cys | |
| XM_011514294.3:c.2782C>T | XP_011512596.1:p.Arg928Cys | |
| XM_017010235.1:c.2860C>T | XP_016865724.1:p.Arg954Cys | |
| NM_001193476.2:c.2860C>T | NP_001180405.1:p.Arg954Cys | |
| NM_052961.4:c.2860C>T MANE Select | NP_443193.1:p.Arg954Cys | |
| NM_138718.3:c.2545C>T | NP_619732.2:p.Arg849Cys |