Linked Data
ClinVar Variation Id:
2537058
ClinVar RCV Id:
RCV004313091
dbSNP Id:
rs148216368
ExAC:
20:42089232 G / A
gnomAD v2:
20-42089232-G-A
gnomAD v3:
20-43460592-G-A
gnomAD v4:
20-43460592-G-A
COSMIC:
COSM1026963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.43460592G>A , CM000682.2:g.43460592G>A | GRCh38 |
| NC_000020.10:g.42089232G>A , CM000682.1:g.42089232G>A | GRCh37 |
| NC_000020.9:g.41522646G>A | NCBI36 |
| NG_029906.1:g.7729G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244020.5:c.668G>A MANE Select | ENSP00000244020.3:p.Arg223His | |
| ENST00000657241.1:c.648G>A | ||
| ENST00000662078.1:c.668G>A | ENSP00000499666.1:p.Arg223His | |
| ENST00000668808.1:c.668G>A | ENSP00000499517.1:p.Arg223His | |
| ENST00000670741.1:c.668G>A | ENSP00000499492.1:p.Arg223His | |
| ENST00000671022.1:n.758G>A | ||
| ENST00000244020.4:c.668G>A | ENSP00000244020.3:p.Arg223His | |
| ENST00000483871.6:c.*528G>A | ENSP00000433544.1:n.*528G>A | |
| NM_006275.5:c.668G>A | NP_006266.2:p.Arg223His | |
| NR_034009.1:n.1106G>A | ||
| XR_936608.1:n.1427G>A | ||
| XR_936608.2:n.1427G>A | ||
| NM_006275.6:c.668G>A MANE Select | NP_006266.2:p.Arg223His | |
| NR_034009.2:n.1074G>A |