Linked Data
ClinVar Variation Id:
2138021
ClinVar RCV Id:
RCV003050471
dbSNP Id:
rs104894599
gnomAD v4:
17-42536416-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536416C>A , CM000679.2:g.42536416C>A | GRCh38 |
| NC_000017.10:g.40688434C>A , CM000679.1:g.40688434C>A | GRCh37 |
| NC_000017.9:g.37941960C>A | NCBI36 |
| NG_011552.1:g.5484C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.144C>A MANE Select | ENSP00000225927.1:p.Phe48Leu | |
| ENST00000225927.6:c.144C>A | ENSP00000225927.1:p.Phe48Leu | |
| NM_000263.3:c.144C>A | NP_000254.2:p.Phe48Leu | |
| XM_024450771.1:c.144C>A | XP_024306539.1:p.Phe48Leu | |
| NM_000263.4:c.144C>A MANE Select | NP_000254.2:p.Phe48Leu |