Linked Data
ClinVar Variation Id:
1359
dbSNP Id:
rs118203984
ExAC:
6:24528277 G / A
gnomAD v2:
6-24528277-G-A
gnomAD v3:
6-24528049-G-A
gnomAD v4:
6-24528049-G-A
PubMed:
PMID:14635103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24528049G>A , CM000668.2:g.24528049G>A | GRCh38 |
| NC_000006.11:g.24528277G>A , CM000668.1:g.24528277G>A | GRCh37 |
| NC_000006.10:g.24636256G>A | NCBI36 |
| NG_008161.1:g.38081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1226G>A MANE Select | ENSP00000350191.3:p.Gly409Asp | |
| ENST00000479394.2:n.341G>A | ||
| ENST00000672352.1:c.845G>A | ENSP00000500876.1:p.Gly282Asp | |
| ENST00000672652.1:c.1189G>A | ||
| ENST00000348925.2:c.1265G>A | ENSP00000314649.3:p.Gly422Asp | |
| ENST00000357578.7:c.1226G>A | ENSP00000350191.3:p.Gly409Asp | |
| ENST00000479394.1:n.341G>A | ||
| ENST00000491546.5:c.1142G>A | ENSP00000417687.1:p.Gly381Asp | |
| NM_001080.3:c.1226G>A MANE Select | NP_001071.1:p.Gly409Asp | |
| NM_170740.1:c.1265G>A | NP_733936.1:p.Gly422Asp | |
| NM_001368954.1:c.1082G>A | NP_001355883.1:p.Gly361Asp |