Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52676401G>T , CM000674.2:g.52676401G>T | GRCh38 |
| NC_000012.11:g.53070185G>T , CM000674.1:g.53070185G>T | GRCh37 |
| NC_000012.10:g.51356452G>T | NCBI36 |
| NG_008364.1:g.9007C>A | |
| NG_008364.2:g.9007C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1349C>A MANE Select | ENSP00000252244.3:p.Ala450Asp | |
| ENST00000548765.1:n.423C>A | ||
| NM_006121.3:c.1349C>A | NP_006112.3:p.Ala450Asp | |
| NM_006121.4:c.1349C>A MANE Select | NP_006112.3:p.Ala450Asp |