Linked Data
ClinVar Variation Id:
2646
dbSNP Id:
rs28940573
ExAC:
11:6638277 G / A
gnomAD v2:
11-6638277-G-A
gnomAD v3:
11-6617046-G-A
gnomAD v4:
11-6617046-G-A
PubMed:
PMID:10665500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617046G>A , CM000673.2:g.6617046G>A | GRCh38 |
| NC_000011.9:g.6638277G>A , CM000673.1:g.6638277G>A | GRCh37 |
| NC_000011.8:g.6594853G>A | NCBI36 |
| NG_008653.1:g.7416C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.502C>T | ENSP00000507321.1:p.Arg168Cys | |
| ENST00000299427.12:c.616C>T MANE Select | ENSP00000299427.6:p.Arg206Cys | |
| ENST00000436873.7:c.312+255C>T | ||
| ENST00000524788.2:n.1775C>T | ||
| ENST00000524903.2:n.1891C>T | ||
| ENST00000528807.2:n.272C>T | ||
| ENST00000530040.2:n.479+313C>T | ||
| ENST00000533371.6:c.-114C>T | ENSP00000437066.1:n.-114C>T | |
| ENST00000534644.6:n.564C>T | ||
| ENST00000642892.1:c.-114C>T | ENSP00000494165.1:n.-114C>T | |
| ENST00000643439.1:c.*356C>T | ENSP00000495849.1:n.*356C>T | |
| ENST00000643479.1:n.645C>T | ||
| ENST00000643516.1:c.395+255C>T | ||
| ENST00000644151.1:n.2055C>T | ||
| ENST00000644218.1:c.616C>T | ENSP00000493574.1:p.Arg206Cys | |
| ENST00000644683.1:c.*69C>T | ENSP00000494085.1:n.*69C>T | |
| ENST00000644810.1:c.337C>T | ENSP00000495895.1:p.Arg113Cys | |
| ENST00000644831.1:n.792C>T | ||
| ENST00000644933.1:c.-114C>T | ENSP00000496133.1:n.-114C>T | |
| ENST00000645020.1:n.1791C>T | ||
| ENST00000645285.1:c.-114C>T | ENSP00000495058.1:n.-114C>T | |
| ENST00000645331.1:n.982C>T | ||
| ENST00000645620.1:c.-114C>T | ENSP00000493657.1:n.-114C>T | |
| ENST00000646777.1:n.792C>T | ||
| ENST00000647016.1:n.1096C>T | ||
| ENST00000647152.1:c.-114C>T | ENSP00000495893.1:n.-114C>T | |
| ENST00000647209.1:c.*485C>T | ENSP00000495558.1:n.*485C>T | |
| ENST00000647346.1:n.1636C>T | ||
| ENST00000299427.10:c.616C>T | ENSP00000299427.6:p.Arg206Cys | |
| ENST00000428886.6:n.785C>T | ||
| ENST00000436873.6:c.450+313C>T | ENSP00000398136.2:n.450+313C>T | |
| ENST00000524788.1:n.316C>T | ||
| ENST00000528571.5:c.*356C>T | ENSP00000434647.1:n.*356C>T | |
| ENST00000528807.1:n.166C>T | ||
| ENST00000533371.5:c.-114C>T | ENSP00000437066.1:n.-114C>T | |
| ENST00000534644.5:n.601C>T | ||
| ENST00000611494.4:c.616C>T | ENSP00000484546.1:p.Arg206Cys | |
| NM_000391.3:c.616C>T | NP_000382.3:p.Arg206Cys | |
| NM_000391.4:c.616C>T MANE Select | NP_000382.3:p.Arg206Cys |