Linked Data
ClinVar Variation Id:
203779
dbSNP Id:
rs200607527
ExAC:
1:120307008 G / A
gnomAD v2:
1-120307008-G-A
gnomAD v3:
1-119764385-G-A
gnomAD v4:
1-119764385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119764385G>A , CM000663.2:g.119764385G>A | GRCh38 |
| NC_000001.10:g.120307008G>A , CM000663.1:g.120307008G>A | GRCh37 |
| NC_000001.9:g.120108531G>A | NCBI36 |
| NG_013348.1:g.9548C>T , LRG_447:g.9548C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369406.8:c.346C>T MANE Select | ENSP00000358414.3:p.Arg116Cys | |
| ENST00000369406.7:c.346C>T | ENSP00000358414.3:p.Arg116Cys | |
| ENST00000476640.1:n.242C>T | ||
| ENST00000544913.2:c.346C>T | ENSP00000439495.2:p.Arg116Cys | |
| NM_001166107.1:c.346C>T , LRG_447t2:c.346C>T | NP_001159579.1:p.Arg116Cys | |
| NM_005518.3:c.346C>T , LRG_447t1:c.346C>T | NP_005509.1:p.Arg116Cys | |
| XM_011541313.1:c.346C>T | XP_011539615.1:p.Arg116Cys | |
| XM_011541313.2:c.346C>T | XP_011539615.1:p.Arg116Cys | |
| NM_005518.4:c.346C>T MANE Select | NP_005509.1:p.Arg116Cys |