Linked Data
dbSNP Id:
rs780455514
ExAC:
4:69535987 C / A
gnomAD v2:
4-69535987-C-A
gnomAD v3:
4-68670269-C-A
gnomAD v4:
4-68670269-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670269C>A , CM000666.2:g.68670269C>A | GRCh38 |
| NC_000004.11:g.69535987C>A , CM000666.1:g.69535987C>A | GRCh37 |
| NC_000004.10:g.69218582C>A | NCBI36 |
| NG_052676.1:g.5508G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338206.6:c.350G>T MANE Select | ENSP00000341045.5:p.Cys117Phe | |
| ENST00000338206.5:c.350G>T | ENSP00000341045.5:p.Cys117Phe | |
| ENST00000616841.4:c.350G>T | ENSP00000482004.1:p.Cys117Phe | |
| NM_001076.3:c.350G>T | NP_001067.2:p.Cys117Phe | |
| NM_001076.4:c.350G>T MANE Select | NP_001067.2:p.Cys117Phe |