Linked Data
ClinVar Variation Id:
245659
dbSNP Id:
rs111400494
ExAC:
1:6536052 G / A
gnomAD v2:
1-6536052-G-A
gnomAD v3:
1-6475992-G-A
gnomAD v4:
1-6475992-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6475992G>A , CM000663.2:g.6475992G>A | GRCh38 |
| NC_000001.10:g.6536052G>A , CM000663.1:g.6536052G>A | GRCh37 |
| NC_000001.9:g.6458639G>A | NCBI36 |
| NG_007978.1:g.49018C>T , LRG_262:g.49018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.88C>T | ENSP00000344570.5:p.Arg30Cys | |
| ENST00000377728.8:c.88C>T MANE Select | ENSP00000366957.3:p.Arg30Cys | |
| ENST00000377740.5:c.88C>T | ENSP00000366969.4:p.Arg30Cys | |
| ENST00000377748.6:c.262C>T | ENSP00000366977.2:p.Arg88Cys | |
| ENST00000400913.6:c.88C>T | ENSP00000383704.1:p.Arg30Cys | |
| ENST00000400915.8:c.199C>T | ENSP00000383706.4:p.Arg67Cys | |
| ENST00000489097.6:n.105C>T | ||
| ENST00000535355.6:c.295C>T | ENSP00000441445.1:p.Arg99Cys | |
| ENST00000537245.6:c.199C>T | ENSP00000439625.2:p.Arg67Cys | |
| ENST00000673471.2:c.385C>T | ENSP00000500749.1:p.Arg129Cys | |
| ENST00000674790.1:c.*300C>T | ENSP00000502815.1:n.*300C>T | |
| ENST00000674803.1:n.318C>T | ||
| ENST00000675093.1:c.88C>T | ENSP00000502687.1:p.Arg30Cys | |
| ENST00000675123.1:c.88C>T | ENSP00000502132.1:p.Arg30Cys | |
| ENST00000675548.1:c.273C>T | ENSP00000502684.1:p.Arg91= | |
| ENST00000675655.1:n.294C>T | ||
| ENST00000675694.1:c.88C>T | ENSP00000501925.1:p.Arg30Cys | |
| ENST00000676287.1:c.88C>T | ENSP00000502810.1:p.Arg30Cys | |
| ENST00000676362.1:n.311C>T | ||
| ENST00000340850.9:c.88C>T | ENSP00000344570.5:p.Arg30Cys | |
| ENST00000377725.5:c.88C>T | ENSP00000366954.1:p.Arg30Cys | |
| ENST00000377728.7:c.88C>T | ENSP00000366957.3:p.Arg30Cys | |
| ENST00000377732.5:c.199C>T | ENSP00000366961.1:p.Arg67Cys | |
| ENST00000377740.4:c.319C>T | ENSP00000366969.3:p.Arg107Cys | |
| ENST00000377748.5:c.319C>T | ENSP00000366977.1:p.Arg107Cys | |
| ENST00000400913.5:c.88C>T | ENSP00000383704.1:p.Arg30Cys | |
| ENST00000400915.7:c.256C>T | ENSP00000383706.3:p.Arg86Cys | |
| ENST00000489097.5:n.105C>T | ||
| ENST00000535355.5:c.295C>T | ENSP00000441445.1:p.Arg99Cys | |
| ENST00000537245.5:c.325C>T | ENSP00000439625.1:p.Arg109Cys | |
| NM_001042663.1:c.256C>T | NP_001036128.1:p.Arg86Cys | |
| NM_001042664.1:c.88C>T | NP_001036129.1:p.Arg30Cys | |
| NM_001042665.1:c.88C>T | NP_001036130.1:p.Arg30Cys | |
| NM_001265592.1:c.325C>T | NP_001252521.1:p.Arg109Cys | |
| NM_001265593.1:c.295C>T | NP_001252522.1:p.Arg99Cys | |
| NM_001265594.1:c.88C>T | NP_001252523.1:p.Arg30Cys | |
| NM_020631.4:c.88C>T | NP_065682.2:p.Arg30Cys | |
| NM_198681.3:c.319C>T | NP_941374.2:p.Arg107Cys | |
| NM_001042663.2:c.256C>T | NP_001036128.1:p.Arg86Cys | |
| NM_001265594.2:c.88C>T | NP_001252523.1:p.Arg30Cys | |
| NM_020631.5:c.88C>T | NP_065682.2:p.Arg30Cys | |
| NM_001042663.3:c.199C>T | NP_001036128.2:p.Arg67Cys | |
| NM_001265592.2:c.199C>T | NP_001252521.2:p.Arg67Cys | |
| NM_020631.6:c.88C>T MANE Select | NP_065682.2:p.Arg30Cys | |
| NM_198681.4:c.88C>T | NP_941374.3:p.Arg30Cys |