Linked Data
ClinVar Variation Id:
5928
ClinVar RCV Id:
RCV000006291
dbSNP Id:
rs104893723
gnomAD v2:
3-190126103-G-A
gnomAD v4:
3-190408314-G-A
PubMed:
PMID:10390358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408314G>A , CM000665.2:g.190408314G>A | GRCh38 |
| NC_000003.11:g.190126103G>A , CM000665.1:g.190126103G>A | GRCh37 |
| NC_000003.10:g.191608797G>A | NCBI36 |
| NG_008149.1:g.25263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.383G>A MANE Select | ENSP00000264734.3:p.Gly128Asp | |
| ENST00000456423.2:c.115-1589G>A | ENSP00000414136.2:n.115-1589G>A | |
| ENST00000264734.2:c.593G>A | ENSP00000264734.2:p.Gly198Asp | |
| ENST00000456423.1:c.325-1589G>A | ENSP00000414136.1:n.325-1589G>A | |
| NM_006580.3:c.593G>A | NP_006571.1:p.Gly198Asp | |
| NM_001378492.1:c.383G>A | NP_001365421.1:p.Gly128Asp | |
| NM_001378493.1:c.383G>A | NP_001365422.1:p.Gly128Asp | |
| NM_006580.4:c.383G>A MANE Select | NP_006571.2:p.Gly128Asp |