Linked Data
ClinVar Variation Id:
1510358
ClinVar RCV Id:
RCV002011706
dbSNP Id:
rs779941206
gnomAD v2:
X-21863338-T-C
gnomAD v3:
X-21845220-T-C
gnomAD v4:
X-21845220-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845220T>C , CM000685.2:g.21845220T>C | GRCh38 |
| NC_000023.10:g.21863338T>C , CM000685.1:g.21863338T>C | GRCh37 |
| NC_000023.9:g.21773259T>C | NCBI36 |
| NG_012797.1:g.10683T>C | |
| NG_012797.2:g.10683T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.274T>C MANE Select | ENSP00000368798.5:p.Phe92Leu | |
| ENST00000365779.2:c.274T>C | ENSP00000368796.1:p.Phe92Leu | |
| ENST00000379484.9:c.274T>C | ENSP00000368798.5:p.Phe92Leu | |
| ENST00000465888.1:n.373T>C | ||
| NM_015884.3:c.274T>C | NP_056968.1:p.Phe92Leu | |
| NM_015884.4:c.274T>C MANE Select | NP_056968.1:p.Phe92Leu |