Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28502082A= , CM000678.2:g.28502082A= | GRCh38 |
| NC_000016.9:g.28513403A= , CM000678.1:g.28513403A= | GRCh37 |
| NC_000016.8:g.28420904A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145659.3:c.356T= MANE Select | NP_663634.2:p.Leu119= |
| ENST00000356897.1:c.356T= MANE Select | ENSP00000349365.1:p.Leu119= |
| ENST00000568075.1:c.-38T= | ENSP00000455990.1:n.-38T= |
| XM_011545780.1:c.362T= | XP_011544082.1:p.Leu121= |
| XM_011545780.2:c.362T= | XP_011544082.1:p.Leu121= |