Linked Data
ClinVar Variation Id:
2428569
ClinVar RCV Id:
RCV003120170
dbSNP Id:
rs1197034794
gnomAD v2:
X-601816-C-G
gnomAD v3:
X-641081-C-G
gnomAD v4:
X-641081-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.641081C>G , CM000685.2:g.641081C>G | GRCh38 |
| NC_000023.10:g.601816C>G , CM000685.1:g.601816C>G | GRCh37 |
| NC_000023.9:g.521816C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686671.1:c.627C>G MANE Select | ENSP00000508521.1:p.Phe209Leu | |
| ENST00000334060.8:c.627C>G | ENSP00000335505.3:p.Phe209Leu | |
| ENST00000381575.6:c.627C>G | ENSP00000370987.1:p.Phe209Leu | |
| ENST00000381578.6:c.627C>G | ENSP00000370990.1:p.Phe209Leu | |
| ENST00000554971.6:c.627C>G | ENSP00000452016.1:p.Phe209Leu |