Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55488818G>T , CM000685.2:g.55488818G>T | GRCh38 |
| NC_000023.10:g.55515251G>T , CM000685.1:g.55515251G>T | GRCh37 |
| NC_000023.9:g.55531976G>T | NCBI36 |
| NG_021371.1:g.5381C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_201286.4:c.122C>A MANE Select | NP_958443.1:p.Ala41Glu |
| ENST00000500968.4:c.122C>A MANE Select | ENSP00000423333.2:p.Ala41Glu |
| NM_201286.3:c.122C>A | NP_958443.1:p.Ala41Glu |
| ENST00000500968.3:c.122C>A | ENSP00000423333.2:p.Ala41Glu |
| XM_005261993.2:c.122C>A | XP_005262050.1:p.Ala41Glu |
| XM_017029299.1:c.122C>A | XP_016884788.1:p.Ala41Glu |
| XM_017029300.1:c.122C>A | XP_016884789.1:p.Ala41Glu |
| XM_017029301.1:c.122C>A | XP_016884790.1:p.Ala41Glu |