Linked Data
ClinVar Variation Id:
995161
ClinVar RCV Id:
RCV001289060
dbSNP Id:
rs367625089
ExAC:
13:28498680 G / A
gnomAD v2:
13-28498680-G-A
gnomAD v3:
13-27924543-G-A
gnomAD v4:
13-27924543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924543G>A , CM000675.2:g.27924543G>A | GRCh38 |
| NC_000013.10:g.28498680G>A , CM000675.1:g.28498680G>A | GRCh37 |
| NC_000013.9:g.27396680G>A | NCBI36 |
| NG_008183.1:g.9513G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.694G>A MANE Select | ENSP00000370421.4:p.Gly232Ser | |
| ENST00000381033.4:c.694G>A | ENSP00000370421.4:p.Gly232Ser | |
| NM_000209.3:c.694G>A | NP_000200.1:p.Gly232Ser | |
| NM_000209.4:c.694G>A MANE Select | NP_000200.1:p.Gly232Ser |