Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55366032G>A , CM000669.2:g.55366032G>A | GRCh38 |
| NC_000007.13:g.55433725G>A , CM000669.1:g.55433725G>A | GRCh37 |
| NC_000007.12:g.55401219G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254770.3:c.7G>A MANE Select | ENSP00000254770.2:p.Glu3Lys | |
| ENST00000254770.2:c.7G>A | ENSP00000254770.2:p.Glu3Lys | |
| NM_018697.3:c.7G>A | NP_061167.1:p.Glu3Lys | |
| NM_018697.4:c.7G>A MANE Select | NP_061167.1:p.Glu3Lys |