Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110432005G>A , CM000675.2:g.110432005G>A | GRCh38 |
| NC_000013.10:g.111084352G>A , CM000675.1:g.111084352G>A | GRCh37 |
| NC_000013.9:g.109882353G>A | NCBI36 |
| NG_032137.1:g.129722G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.649-320G>A MANE Select | NP_001837.2:n.649-320G>A |
| ENST00000360467.7:c.649-320G>A MANE Select | ENSP00000353654.5:n.649-320G>A |
| NM_001846.2:c.649-320G>A | NP_001837.2:n.649-320G>A |
| NM_001846.3:c.649-320G>A | NP_001837.2:n.649-320G>A |
| ENST00000360467.5:c.649-320G>A | ENSP00000353654.5:n.649-320G>A |
| ENST00000650540.1:c.649-320G>A | ENSP00000497878.1:n.649-320G>A |