Linked Data
ClinVar Variation Id:
1988441
ClinVar RCV Id:
RCV002781305
dbSNP Id:
rs1399520060
gnomAD v3:
17-42911318-C-A
gnomAD v4:
17-42911318-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911318C>A , CM000679.2:g.42911318C>A | GRCh38 |
| NC_000017.10:g.41063335C>A , CM000679.1:g.41063335C>A | GRCh37 |
| NC_000017.9:g.38316861C>A | NCBI36 |
| NG_011808.1:g.15521C>A , LRG_147:g.15521C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.966C>A MANE Select | ENSP00000253801.1:p.Phe322Leu | |
| ENST00000253801.6:c.966C>A | ENSP00000253801.1:p.Phe322Leu | |
| ENST00000585489.1:c.*358C>A | ENSP00000466202.1:n.*358C>A | |
| ENST00000592383.5:c.*358C>A | ENSP00000465958.1:n.*358C>A | |
| NM_000151.3:c.966C>A | NP_000142.2:p.Phe322Leu | |
| NM_001270397.1:c.*358C>A | NP_001257326.1:n.*358C>A | |
| NM_000151.4:c.966C>A MANE Select | NP_000142.2:p.Phe322Leu | |
| NM_001270397.2:c.*358C>A | NP_001257326.1:n.*358C>A |