Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179088013C>T , CM000663.2:g.179088013C>T | GRCh38 |
| NC_000001.10:g.179057148C>T , CM000663.1:g.179057148C>T | GRCh37 |
| NC_000001.9:g.177323771C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367627.8:c.742C>T MANE Select | ENSP00000356599.3:p.Leu248Phe | |
| ENST00000352445.10:c.742C>T | ENSP00000335351.6:p.Leu248Phe | |
| ENST00000367627.7:c.742C>T | ENSP00000356599.3:p.Leu248Phe | |
| ENST00000447595.1:c.418C>T | ENSP00000410195.1:p.Leu140Phe | |
| ENST00000472001.1:n.424C>T | ||
| ENST00000483887.1:c.*669C>T | ENSP00000435744.1:n.*669C>T | |
| ENST00000495145.1:n.199C>T | ||
| NM_022371.3:c.742C>T | NP_071766.2:p.Leu248Phe | |
| NM_022371.4:c.742C>T MANE Select | NP_071766.2:p.Leu248Phe |