Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55366191A= , CM000669.2:g.55366191A= | GRCh38 |
| NC_000007.13:g.55433884A= , CM000669.1:g.55433884A= | GRCh37 |
| NC_000007.12:g.55401378A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254770.3:c.166A= MANE Select | ENSP00000254770.2:p.Thr56= | |
| ENST00000254770.2:c.166A= | ENSP00000254770.2:p.Thr56= | |
| ENST00000452107.6:c.81A= | ||
| NM_018697.3:c.166A= | NP_061167.1:p.Thr56= | |
| NM_018697.4:c.166A= MANE Select | NP_061167.1:p.Thr56= |