Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5043981C>A , CM000674.2:g.5043981C>A | GRCh38 |
| NC_000012.11:g.5153147C>A , CM000674.1:g.5153147C>A | GRCh37 |
| NC_000012.10:g.5023408C>A | NCBI36 |
| NG_012198.1:g.5063C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002234.4:c.-167C>A MANE Select | NP_002225.2:n.-167C>A |
| ENST00000252321.5:c.-167C>A MANE Select | ENSP00000252321.3:n.-167C>A |
| NM_002234.3:c.-167C>A | NP_002225.2:n.-167C>A |