Linked Data
ClinVar Variation Id:
213741
dbSNP Id:
rs370141550
ExAC:
20:45362418 G / A
gnomAD v2:
20-45362418-G-A
gnomAD v3:
20-46733779-G-A
gnomAD v4:
20-46733779-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46733779G>A , CM000682.2:g.46733779G>A | GRCh38 |
| NC_000020.10:g.45362418G>A , CM000682.1:g.45362418G>A | GRCh37 |
| NC_000020.9:g.44795825G>A | NCBI36 |
| NG_016284.1:g.29140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.1571G>A MANE Select | ENSP00000352216.2:p.Arg524Lys | |
| ENST00000359271.3:c.1571G>A | ENSP00000352216.2:p.Arg524Lys | |
| NM_030777.3:c.1571G>A | NP_110404.1:p.Arg524Lys | |
| XM_011529060.1:c.1634G>A | XP_011527362.1:p.Arg545Lys | |
| XM_011529061.1:c.1580G>A | XP_011527363.1:p.Arg527Lys | |
| XM_011529062.1:c.1547G>A | XP_011527364.1:p.Arg516Lys | |
| XM_011529065.1:c.*13G>A | XP_011527367.1:n.*13G>A | |
| XR_936641.1:n.1819G>A | ||
| XM_011529060.2:c.1634G>A | XP_011527362.1:p.Arg545Lys | |
| XM_011529061.2:c.1580G>A | XP_011527363.1:p.Arg527Lys | |
| XM_011529062.2:c.1547G>A | XP_011527364.1:p.Arg516Lys | |
| XM_011529065.2:c.*13G>A | XP_011527367.1:n.*13G>A | |
| XM_017028087.2:c.*13G>A | XP_016883576.1:n.*13G>A | |
| XR_936641.2:n.1806G>A | ||
| NM_030777.4:c.1571G>A MANE Select | NP_110404.1:p.Arg524Lys |