Linked Data
ClinVar Variation Id:
65554
ClinVar RCV Id:
RCV002054894
dbSNP Id:
rs397515511
PubMed:
PMID:20301302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785676G>T , CM000681.2:g.18785676G>T | GRCh38 |
| NC_000019.9:g.18896486G>T , CM000681.1:g.18896486G>T | GRCh37 |
| NC_000019.8:g.18757486G>T | NCBI36 |
| NG_007070.1:g.10629C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1665C>A MANE Select | ENSP00000222271.2:p.Asn555Lys | |
| ENST00000222271.6:c.1665C>A | ENSP00000222271.2:p.Asn555Lys | |
| ENST00000425807.1:c.1506C>A | ENSP00000403792.1:p.Asn502Lys | |
| ENST00000542601.6:c.1566C>A | ENSP00000439156.2:p.Asn522Lys | |
| NM_000095.2:c.1665C>A | NP_000086.2:p.Asn555Lys | |
| NM_000095.3:c.1665C>A MANE Select | NP_000086.2:p.Asn555Lys |