Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.36105297C>A , CM000679.2:g.36105297C>A | GRCh38 |
| NC_000017.10:g.34432690C>A , CM000679.1:g.34432690C>A | GRCh37 |
| NC_000017.9:g.31456803C>A | NCBI36 |
| NG_033066.2:g.6472C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002984.4:c.264C>A MANE Select | NP_002975.1:p.Asp88Glu |
| ENST00000615863.2:c.264C>A MANE Select | ENSP00000482259.1:p.Asp88Glu |
| NM_002984.3:c.264C>A | NP_002975.1:p.Asp88Glu |
| ENST00000613947.1:n.1457C>A | |
| ENST00000615863.1:c.264C>A | ENSP00000482259.1:p.Asp88Glu |
| ENST00000621626.1:c.149C>A | ENSP00000480569.1:p.Thr50Asn |
| XR_001752866.1:n.1810-6390G>T |