Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109556171C>T , CM000674.2:g.109556171C>T | GRCh38 |
| NC_000012.11:g.109993976C>T , CM000674.1:g.109993976C>T | GRCh37 |
| NC_000012.10:g.108478359C>T | NCBI36 |
| NG_007096.1:g.22327G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.*857G>A MANE Select | ENSP00000445920.1:n.*857G>A | |
| ENST00000545712.6:c.*857G>A | ENSP00000445920.1:n.*857G>A | |
| NM_052845.3:c.*857G>A | NP_443077.1:n.*857G>A | |
| NR_038118.1:n.1770G>A | ||
| NM_052845.4:c.*857G>A MANE Select | NP_443077.1:n.*857G>A | |
| NR_038118.2:n.1721G>A |