Linked Data
ClinVar Variation Id:
372808
ClinVar RCV Id:
RCV000414290
dbSNP Id:
rs1057517994
gnomAD v4:
5-151851597-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851597G>C , CM000667.2:g.151851597G>C | GRCh38 |
| NC_000005.9:g.151231158G>C , CM000667.1:g.151231158G>C | GRCh37 |
| NC_000005.8:g.151211351G>C | NCBI36 |
| NG_011764.1:g.78240C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.705C>G MANE Select | ENSP00000274576.5:p.Phe235Leu | |
| ENST00000274576.8:c.705C>G | ENSP00000274576.4:p.Phe235Leu | |
| ENST00000455880.2:c.705C>G | ENSP00000411593.2:p.Phe235Leu | |
| ENST00000462581.6:c.*463C>G | ENSP00000430595.1:n.*463C>G | |
| ENST00000471351.2:n.988C>G | ||
| NM_000171.3:c.705C>G | NP_000162.2:p.Phe235Leu | |
| NM_001146040.1:c.705C>G | NP_001139512.1:p.Phe235Leu | |
| NM_001292000.1:c.456C>G | NP_001278929.1:p.Phe152Leu | |
| XM_005268412.2:c.705C>G | XP_005268469.1:p.Phe235Leu | |
| NM_000171.4:c.705C>G MANE Select | NP_000162.2:p.Phe235Leu | |
| NM_001146040.2:c.705C>G | NP_001139512.1:p.Phe235Leu | |
| NM_001292000.2:c.456C>G | NP_001278929.1:p.Phe152Leu |