Linked Data
ClinVar Variation Id:
2564031
ClinVar RCV Id:
RCV003306360
dbSNP Id:
rs769177320
ExAC:
20:45354201 G / A
gnomAD v2:
20-45354201-G-A
gnomAD v4:
20-46725562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725562G>A , CM000682.2:g.46725562G>A | GRCh38 |
| NC_000020.10:g.45354201G>A , CM000682.1:g.45354201G>A | GRCh37 |
| NC_000020.9:g.44787608G>A | NCBI36 |
| NG_016284.1:g.20923G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.526G>A MANE Select | ENSP00000352216.2:p.Val176Ile | |
| ENST00000359271.3:c.526G>A | ENSP00000352216.2:p.Val176Ile | |
| NM_030777.3:c.526G>A | NP_110404.1:p.Val176Ile | |
| XM_011529060.1:c.589G>A | XP_011527362.1:p.Val197Ile | |
| XM_011529061.1:c.535G>A | XP_011527363.1:p.Val179Ile | |
| XM_011529062.1:c.589G>A | XP_011527364.1:p.Val197Ile | |
| XM_011529063.1:c.589G>A | XP_011527365.1:p.Val197Ile | |
| XM_011529064.1:c.589G>A | XP_011527366.1:p.Val197Ile | |
| XM_011529065.1:c.589G>A | XP_011527367.1:p.Val197Ile | |
| XR_936641.1:n.725G>A | ||
| XM_011529060.2:c.589G>A | XP_011527362.1:p.Val197Ile | |
| XM_011529061.2:c.535G>A | XP_011527363.1:p.Val179Ile | |
| XM_011529062.2:c.589G>A | XP_011527364.1:p.Val197Ile | |
| XM_011529063.2:c.589G>A | XP_011527365.1:p.Val197Ile | |
| XM_011529064.2:c.589G>A | XP_011527366.1:p.Val197Ile | |
| XM_011529065.2:c.589G>A | XP_011527367.1:p.Val197Ile | |
| XM_017028087.2:c.526G>A | XP_016883576.1:p.Val176Ile | |
| XR_936641.2:n.712G>A | ||
| NM_030777.4:c.526G>A MANE Select | NP_110404.1:p.Val176Ile |