Linked Data
ClinVar Variation Id:
259186
dbSNP Id:
rs201392536
ExAC:
20:49575039 G / A
gnomAD v2:
20-49575039-G-A
gnomAD v3:
20-50958502-G-A
gnomAD v4:
20-50958502-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50958502G>A , CM000682.2:g.50958502G>A | GRCh38 |
| NC_000020.10:g.49575039G>A , CM000682.1:g.49575039G>A | GRCh37 |
| NC_000020.9:g.49008446G>A | NCBI36 |
| NG_008923.1:g.5022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.22C>T | ENSP00000360640.5:p.Arg8Cys | |
| ENST00000682754.1:n.20C>T | ||
| ENST00000683048.1:c.22C>T | ENSP00000506986.1:p.Arg8Cys | |
| ENST00000683466.1:c.-155+239C>T | ENSP00000507404.1:n.-155+239C>T | |
| ENST00000684628.1:n.31C>T | ||
| ENST00000371588.10:c.22C>T MANE Select | ENSP00000360644.5:p.Arg8Cys | |
| ENST00000371582.8:c.22C>T | ENSP00000360638.4:p.Arg8Cys | |
| ENST00000371584.8:c.20C>T | ||
| ENST00000371588.9:c.22C>T | ENSP00000360644.5:p.Arg8Cys | |
| ENST00000413082.1:c.22C>T | ENSP00000394921.1:p.Arg8Cys | |
| ENST00000466152.5:n.49C>T | ||
| NM_001317034.1:c.22C>T | NP_001303963.1:p.Arg8Cys | |
| NM_001317035.1:c.22C>T | NP_001303964.1:p.Arg8Cys | |
| NM_001317036.1:c.22C>T | NP_001303965.1:p.Arg8Cys | |
| NM_003859.1:c.22C>T | NP_003850.1:p.Arg8Cys | |
| NM_003859.2:c.22C>T | NP_003850.1:p.Arg8Cys | |
| NR_133648.1:n.63C>T | ||
| XM_011529093.1:c.22C>T | XP_011527395.1:p.Arg8Cys | |
| XM_011529094.1:c.22C>T | XP_011527396.1:p.Arg8Cys | |
| XR_002958550.1:n.60C>T | ||
| XR_002958551.1:n.61C>T | ||
| NM_003859.3:c.22C>T MANE Select | NP_003850.1:p.Arg8Cys | |
| NR_133648.2:n.31C>T |