Linked Data
ClinVar Variation Id:
1565238
ClinVar RCV Id:
RCV002218222
dbSNP Id:
rs2108749298
MyVariant Identifiers:
chr3:g.129247861C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529018C>G , CM000665.2:g.129529018C>G | GRCh38 |
| NC_000003.11:g.129247861C>G , CM000665.1:g.129247861C>G | GRCh37 |
| NC_000003.10:g.130730551C>G | NCBI36 |
| NG_009115.1:g.5380C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.285C>G MANE Select | ENSP00000296271.3:p.Leu95= | |
| ENST00000296271.3:c.285C>G | ENSP00000296271.3:p.Leu95= | |
| NM_000539.3:c.285C>G MANE Select | NP_000530.1:p.Leu95= |