Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55425413C>T , CM000669.2:g.55425413C>T | GRCh38 |
| NC_000007.13:g.55493106C>T , CM000669.1:g.55493106C>T | GRCh37 |
| NC_000007.12:g.55460600C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254770.3:c.1168C>T MANE Select | ENSP00000254770.2:p.Leu390Phe | |
| ENST00000254770.2:c.1168C>T | ENSP00000254770.2:p.Leu390Phe | |
| ENST00000452107.6:c.1270C>T | ||
| ENST00000476479.1:n.386C>T | ||
| NM_018697.3:c.1168C>T | NP_061167.1:p.Leu390Phe | |
| XM_011515448.1:c.907C>T | XP_011513750.1:p.Leu303Phe | |
| NM_018697.4:c.1168C>T MANE Select | NP_061167.1:p.Leu390Phe |