Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22786776G>T , CM000677.2:g.22786776G>T | GRCh38 |
| NC_000015.9:g.23086292C>A , CM000677.1:g.23086292C>A | GRCh37 |
| NC_000015.8:g.20637733C>A | NCBI36 |
| NG_009056.1:g.5552G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.120G>T MANE Select | ENSP00000337452.4:p.Leu40= | |
| ENST00000337435.8:c.120G>T | ENSP00000337452.4:p.Leu40= | |
| ENST00000437912.6:c.-48+12463G>T | ENSP00000393962.2:n.-48+12463G>T | |
| ENST00000559448.5:c.10G>T | ||
| ENST00000560069.5:n.31+528G>T | ||
| ENST00000560105.1:n.19G>T | ||
| ENST00000561183.5:c.-48+528G>T | ENSP00000453722.1:n.-48+528G>T | |
| NM_001142275.1:c.-48+528G>T | NP_001135747.1:n.-48+528G>T | |
| NM_144599.4:c.120G>T | NP_653200.2:p.Leu40= | |
| NM_144599.5:c.120G>T MANE Select | NP_653200.2:p.Leu40= |