Linked Data
dbSNP Id:
rs763728778
ExAC:
4:69535662 A / T
gnomAD v2:
4-69535662-A-T
gnomAD v3:
4-68669944-A-T
gnomAD v4:
4-68669944-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68669944A>T , CM000666.2:g.68669944A>T | GRCh38 |
| NC_000004.11:g.69535662A>T , CM000666.1:g.69535662A>T | GRCh37 |
| NC_000004.10:g.69218257A>T | NCBI36 |
| NG_052676.1:g.5833T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.675T>A MANE Select | ENSP00000341045.5:p.Phe225Leu | |
| ENST00000338206.5:c.675T>A | ENSP00000341045.5:p.Phe225Leu | |
| ENST00000616841.4:c.675T>A | ENSP00000482004.1:p.Phe225Leu | |
| NM_001076.3:c.675T>A | NP_001067.2:p.Phe225Leu | |
| NM_001076.4:c.675T>A MANE Select | NP_001067.2:p.Phe225Leu |