Linked Data
ClinVar Variation Id:
1061180
ClinVar RCV Id:
RCV001824448
dbSNP Id:
rs967581444
gnomAD v2:
1-218520348-A-G
gnomAD v3:
1-218347006-A-G
gnomAD v4:
1-218347006-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218347006A>G , CM000663.2:g.218347006A>G | GRCh38 |
| NC_000001.10:g.218520348A>G , CM000663.1:g.218520348A>G | GRCh37 |
| NC_000001.9:g.216586971A>G | NCBI36 |
| NG_027721.1:g.6673A>G | |
| NG_027721.2:g.6673A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.305A>G MANE Select | ENSP00000355897.4:p.Glu102Gly | |
| ENST00000366929.4:c.305A>G | ENSP00000355896.4:p.Glu102Gly | |
| ENST00000366930.8:c.305A>G | ENSP00000355897.4:p.Glu102Gly | |
| NM_001135599.2:c.305A>G | NP_001129071.1:p.Glu102Gly | |
| NM_003238.3:c.305A>G | NP_003229.1:p.Glu102Gly | |
| NM_001135599.3:c.305A>G | NP_001129071.1:p.Glu102Gly | |
| NM_003238.4:c.305A>G | NP_003229.1:p.Glu102Gly | |
| NR_138148.1:n.1723A>G | ||
| NR_138149.1:n.1723A>G | ||
| NM_003238.5:c.305A>G | NP_003229.1:p.Glu102Gly | |
| NM_003238.6:c.305A>G MANE Select | NP_003229.1:p.Glu102Gly | |
| NM_001135599.4:c.305A>G | NP_001129071.1:p.Glu102Gly | |
| NR_138148.2:n.1671A>G | ||
| NR_138149.2:n.1671A>G |