Linked Data
ClinVar Variation Id:
936716
ClinVar RCV Id:
RCV001205571
dbSNP Id:
rs756140673
ExAC:
15:73615863 G / C
gnomAD v4:
15-73323522-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323522G>C , CM000677.2:g.73323522G>C | GRCh38 |
| NC_000015.9:g.73615863G>C , CM000677.1:g.73615863G>C | GRCh37 |
| NC_000015.8:g.71402916G>C | NCBI36 |
| NG_009063.1:g.50743C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2571C>G MANE Select | ENSP00000261917.3:p.Phe857Leu | |
| ENST00000261917.3:c.2571C>G | ENSP00000261917.3:p.Phe857Leu | |
| NM_005477.2:c.2571C>G | NP_005468.1:p.Phe857Leu | |
| XM_011521148.1:c.1353C>G | XP_011519450.1:p.Phe451Leu | |
| XM_011521148.2:c.1353C>G | XP_011519450.1:p.Phe451Leu | |
| NM_005477.3:c.2571C>G MANE Select | NP_005468.1:p.Phe857Leu |