Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003463T= , CM000679.2:g.8003463T= | GRCh38 |
| NC_000017.10:g.7906781T= , CM000679.1:g.7906781T= | GRCh37 |
| NC_000017.9:g.7847506T= | NCBI36 |
| NG_009092.1:g.5794T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.416T= MANE Select | NP_000171.1:p.Leu139= |
| ENST00000254854.5:c.416T= MANE Select | ENSP00000254854.4:p.Leu139= |
| NM_000180.3:c.416T= | NP_000171.1:p.Leu139= |
| ENST00000254854.4:c.416T= | ENSP00000254854.4:p.Leu139= |
| XM_011523816.1:c.416T= | XP_011522118.1:p.Leu139= |