Linked Data
ClinVar Variation Id:
1184837
dbSNP Id:
rs377244239
ExAC:
20:60897731 G / A
gnomAD v2:
20-60897731-G-A
gnomAD v3:
20-62322675-G-A
gnomAD v4:
20-62322675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62322675G>A , CM000682.2:g.62322675G>A | GRCh38 |
| NC_000020.10:g.60897731G>A , CM000682.1:g.60897731G>A | GRCh37 |
| NC_000020.9:g.60331126G>A | NCBI36 |
| NG_050626.1:g.49646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252999.7:c.6148C>T MANE Select | ENSP00000252999.3:p.Arg2050Cys | |
| NM_005560.4:c.6148C>T | NP_005551.3:p.Arg2050Cys | |
| XM_006723796.2:c.6148C>T | XP_006723859.1:p.Arg2050Cys | |
| XM_006723798.2:c.6148C>T | XP_006723861.1:p.Arg2050Cys | |
| XM_011528818.1:c.6010C>T | XP_011527120.1:p.Arg2004Cys | |
| XM_011528819.1:c.5875C>T | XP_011527121.1:p.Arg1959Cys | |
| XR_936532.1:n.6220C>T | ||
| XM_006723796.3:c.6148C>T | XP_006723859.1:p.Arg2050Cys | |
| XM_006723798.3:c.6148C>T | XP_006723861.1:p.Arg2050Cys | |
| XM_011528818.2:c.6010C>T | XP_011527120.1:p.Arg2004Cys | |
| XM_011528819.2:c.5875C>T | XP_011527121.1:p.Arg1959Cys | |
| XR_936532.2:n.6219C>T | ||
| NM_005560.5:c.6148C>T | NP_005551.3:p.Arg2050Cys | |
| NM_005560.6:c.6148C>T MANE Select | NP_005551.3:p.Arg2050Cys |