Linked Data
ClinVar Variation Id:
426285
ClinVar RCV Id:
RCV000489530
dbSNP Id:
rs1085307539
gnomAD v3:
1-160192863-A-G
gnomAD v4:
1-160192863-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160192863A>G , CM000663.2:g.160192863A>G | GRCh38 |
| NC_000001.10:g.160162653A>G , CM000663.1:g.160162653A>G | GRCh37 |
| NC_000001.9:g.158429277A>G | NCBI36 |
| NG_042040.1:g.7369A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368078.8:c.341A>G MANE Select | ENSP00000357057.3:p.Asp114Gly | |
| ENST00000368078.7:c.341A>G | ENSP00000357057.3:p.Asp114Gly | |
| ENST00000481081.1:n.226A>G | ||
| NM_001231.4:c.341A>G | NP_001222.3:p.Asp114Gly | |
| NM_001231.5:c.341A>G MANE Select | NP_001222.3:p.Asp114Gly |