Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52552656A= , CM000674.2:g.52552656A= | GRCh38 |
| NC_000012.11:g.52946440A= , CM000674.1:g.52946440A= | GRCh37 |
| NC_000012.10:g.51232707A= | NCBI36 |
| NG_012426.1:g.5492T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033448.3:c.422T= MANE Select | NP_258259.1:p.Phe141= |
| ENST00000267119.6:c.422T= MANE Select | ENSP00000267119.5:p.Phe141= |
| NM_033448.2:c.422T= | NP_258259.1:p.Phe141= |
| ENST00000267119.5:c.422T= | ENSP00000267119.5:p.Phe141= |
| XM_017018749.1:c.176T= | XP_016874238.1:p.Phe59= |