Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839529A>T , CM000677.2:g.84839529A>T | GRCh38 |
| NC_000015.9:g.85382760A>T , CM000677.1:g.85382760A>T | GRCh37 |
| NC_000015.8:g.83183764A>T | NCBI36 |
| NG_054748.1:g.27899A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020778.5:c.423-173A>T MANE Select | NP_065829.4:n.423-173A>T |
| ENST00000258888.6:c.423-173A>T MANE Select | ENSP00000258888.6:n.423-173A>T |
| NM_020778.4:c.1029-173A>T | NP_065829.3:n.1029-173A>T |
| ENST00000258888.5:c.1029-173A>T | ENSP00000258888.5:n.1029-173A>T |