Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26693178G>A , CM000664.2:g.26693178G>A | GRCh38 |
| NC_000002.11:g.26916046G>A , CM000664.1:g.26916046G>A | GRCh37 |
| NC_000002.10:g.26769550G>A | NCBI36 |
| NG_033884.1:g.5466G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002246.3:c.283+20G>A MANE Select | NP_002237.1:n.283+20G>A |
| ENST00000302909.4:c.283+20G>A MANE Select | ENSP00000306275.3:n.283+20G>A |
| NM_002246.2:c.283+20G>A | NP_002237.1:n.283+20G>A |
| ENST00000302909.3:c.283+20G>A | ENSP00000306275.3:n.283+20G>A |
| ENST00000620977.1:c.-87+20G>A | ENSP00000483136.1:n.-87+20G>A |