Linked Data
ClinVar Variation Id:
13703
ClinVar RCV Id:
RCV000030895
dbSNP Id:
rs121917999
gnomAD v4:
1-94418528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418528G>A , CM000663.2:g.94418528G>A | GRCh38 |
| NC_000001.10:g.94884084G>A , CM000663.1:g.94884084G>A | GRCh37 |
| NC_000001.9:g.94656672G>A | NCBI36 |
| NG_008865.1:g.5152G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370214.9:c.50G>A MANE Select | ENSP00000359233.4:p.Gly17Asp | |
| ENST00000647998.2:c.50G>A | ENSP00000497921.2:p.Gly17Asp | |
| ENST00000315713.5:c.50G>A | ENSP00000326880.5:p.Gly17Asp | |
| ENST00000370214.8:c.50G>A | ENSP00000359233.4:p.Gly17Asp | |
| NM_001122674.1:c.50G>A | NP_001116146.1:p.Gly17Asp | |
| NM_002858.3:c.50G>A | NP_002849.1:p.Gly17Asp | |
| XM_006710802.2:c.50G>A | XP_006710865.2:p.Gly17Asp | |
| NM_002858.4:c.50G>A MANE Select | NP_002849.1:p.Gly17Asp | |
| NM_001122674.2:c.50G>A | NP_001116146.1:p.Gly17Asp |