Linked Data
ClinVar Variation Id:
1773787
ClinVar RCV Id:
RCV002389704
dbSNP Id:
rs1199428558
gnomAD v3:
7-128840102-C-A
gnomAD v4:
7-128840102-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128840102C>A , CM000669.2:g.128840102C>A | GRCh38 |
| NC_000007.13:g.128480156C>A , CM000669.1:g.128480156C>A | GRCh37 |
| NC_000007.12:g.128267392C>A | NCBI36 |
| NG_011807.1:g.14674C>A , LRG_870:g.14674C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.1491C>A MANE Select | ENSP00000327145.8:p.Phe497Leu | |
| ENST00000325888.12:c.1491C>A | ENSP00000327145.8:p.Phe497Leu | |
| ENST00000346177.6:c.1491C>A | ENSP00000344002.6:p.Phe497Leu | |
| NM_001127487.1:c.1491C>A | NP_001120959.1:p.Phe497Leu | |
| NM_001458.4:c.1491C>A , LRG_870t1:c.1491C>A | NP_001449.3:p.Phe497Leu | |
| NM_001127487.2:c.1491C>A | NP_001120959.1:p.Phe497Leu | |
| NM_001458.5:c.1491C>A MANE Select | NP_001449.3:p.Phe497Leu |