Linked Data
ClinVar Variation Id:
1709017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785676G>C , CM000681.2:g.18785676G>C | GRCh38 |
| NC_000019.9:g.18896486G>C , CM000681.1:g.18896486G>C | GRCh37 |
| NC_000019.8:g.18757486G>C | NCBI36 |
| NG_007070.1:g.10629C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1665C>G MANE Select | ENSP00000222271.2:p.Asn555Lys | |
| ENST00000222271.6:c.1665C>G | ENSP00000222271.2:p.Asn555Lys | |
| ENST00000425807.1:c.1506C>G | ENSP00000403792.1:p.Asn502Lys | |
| ENST00000542601.6:c.1566C>G | ENSP00000439156.2:p.Asn522Lys | |
| NM_000095.2:c.1665C>G | NP_000086.2:p.Asn555Lys | |
| NM_000095.3:c.1665C>G MANE Select | NP_000086.2:p.Asn555Lys |