Linked Data
ClinVar Variation Id:
2634953
ClinVar RCV Id:
RCV004552548
dbSNP Id:
rs749996964
ExAC:
13:28498620 G / A
gnomAD v2:
13-28498620-G-A
gnomAD v3:
13-27924483-G-A
gnomAD v4:
13-27924483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924483G>A , CM000675.2:g.27924483G>A | GRCh38 |
| NC_000013.10:g.28498620G>A , CM000675.1:g.28498620G>A | GRCh37 |
| NC_000013.9:g.27396620G>A | NCBI36 |
| NG_008183.1:g.9453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.634G>A MANE Select | ENSP00000370421.4:p.Gly212Arg | |
| ENST00000381033.4:c.634G>A | ENSP00000370421.4:p.Gly212Arg | |
| NM_000209.3:c.634G>A | NP_000200.1:p.Gly212Arg | |
| NM_000209.4:c.634G>A MANE Select | NP_000200.1:p.Gly212Arg |