Linked Data
dbSNP Id:
rs746304550
ExAC:
4:69535842 A / C
gnomAD v2:
4-69535842-A-C
gnomAD v4:
4-68670124-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670124A>C , CM000666.2:g.68670124A>C | GRCh38 |
| NC_000004.11:g.69535842A>C , CM000666.1:g.69535842A>C | GRCh37 |
| NC_000004.10:g.69218437A>C | NCBI36 |
| NG_052676.1:g.5653T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.495T>G MANE Select | ENSP00000341045.5:p.Phe165Leu | |
| ENST00000338206.5:c.495T>G | ENSP00000341045.5:p.Phe165Leu | |
| ENST00000616841.4:c.495T>G | ENSP00000482004.1:p.Phe165Leu | |
| NM_001076.3:c.495T>G | NP_001067.2:p.Phe165Leu | |
| NM_001076.4:c.495T>G MANE Select | NP_001067.2:p.Phe165Leu |