Linked Data
ClinVar Variation Id:
1782047
ClinVar RCV Id:
RCV002408002
dbSNP Id:
rs777384494
ExAC:
17:37822046 G / A
gnomAD v2:
17-37822046-G-A
gnomAD v4:
17-39665793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665793G>A , CM000679.2:g.39665793G>A | GRCh38 |
| NC_000017.10:g.37822046G>A , CM000679.1:g.37822046G>A | GRCh37 |
| NC_000017.9:g.35075572G>A | NCBI36 |
| NG_008892.1:g.5448G>A , LRG_210:g.5448G>A | |
| NG_042278.1:g.2813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.188G>A MANE Select | ENSP00000312624.2:p.Arg63His | |
| ENST00000309889.2:c.188G>A | ENSP00000312624.2:p.Arg63His | |
| ENST00000578283.1:c.174+14G>A | ENSP00000462787.1:n.174+14G>A | |
| NM_003673.3:c.188G>A , LRG_210t1:c.188G>A | NP_003664.1:p.Arg63His | |
| NM_003673.4:c.188G>A MANE Select | NP_003664.1:p.Arg63His |