Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69651969C>A , CM000673.2:g.69651969C>A | GRCh38 |
| NC_000011.9:g.69466737C>A , CM000673.1:g.69466737C>A | GRCh37 |
| NC_000011.8:g.69175918C>A | NCBI36 |
| NG_007375.1:g.15865C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053056.3:c.*687C>A MANE Select | NP_444284.1:n.*687C>A |
| ENST00000227507.3:c.*687C>A MANE Select | ENSP00000227507.2:n.*687C>A |
| NM_053056.2:c.*687C>A | NP_444284.1:n.*687C>A |
| ENST00000227507.2:c.*687C>A | ENSP00000227507.2:n.*687C>A |
| XM_006718653.2:c.*687C>A | XP_006718716.1:n.*687C>A |