Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22341556G>A , CM000673.2:g.22341556G>A | GRCh38 |
| NC_000011.9:g.22363102G>A , CM000673.1:g.22363102G>A | GRCh37 |
| NC_000011.8:g.22319678G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020346.3:c.115G>A MANE Select | NP_065079.1:p.Glu39Lys |
| ENST00000263160.4:c.115G>A MANE Select | ENSP00000263160.3:p.Glu39Lys |
| NM_020346.2:c.115G>A | NP_065079.1:p.Glu39Lys |
| ENST00000263160.3:c.115G>A | ENSP00000263160.3:p.Glu39Lys |