Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839713A>T , CM000677.2:g.84839713A>T | GRCh38 |
| NC_000015.9:g.85382944A>T , CM000677.1:g.85382944A>T | GRCh37 |
| NC_000015.8:g.83183948A>T | NCBI36 |
| NG_054748.1:g.28083A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.434A>T MANE Select | ENSP00000258888.6:p.Glu145Val | |
| ENST00000258888.5:c.1040A>T | ENSP00000258888.5:p.Glu347Val | |
| NM_020778.4:c.1040A>T | NP_065829.3:p.Glu347Val | |
| NM_020778.5:c.434A>T MANE Select | NP_065829.4:p.Glu145Val |