Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54621572C>A , CM000670.2:g.54621572C>A | GRCh38 |
| NC_000008.10:g.55534132C>A , CM000670.1:g.55534132C>A | GRCh37 |
| NC_000008.9:g.55696685C>A | NCBI36 |
| NG_009840.1:g.10506C>A | |
| NG_009840.2:g.10506C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006269.2:c.606C>A MANE Select | NP_006260.1:p.Asp202Glu |
| ENST00000220676.2:c.606C>A MANE Select | ENSP00000220676.1:p.Asp202Glu |
| NM_001375654.1:c.606C>A | NP_001362583.1:p.Asp202Glu |
| NM_006269.1:c.606C>A | NP_006260.1:p.Asp202Glu |
| ENST00000220676.1:c.606C>A | ENSP00000220676.1:p.Asp202Glu |
| ENST00000636932.1:c.606C>A | ENSP00000489857.1:p.Asp202Glu |
| ENST00000637698.1:c.606C>A | ENSP00000490104.1:p.Asp202Glu |
| XM_017013721.1:c.627C>A | XP_016869210.1:p.Asp209Glu |
| XM_017013722.1:c.606C>A | XP_016869211.1:p.Asp202Glu |