Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59841341G>T , CM000673.2:g.59841341G>T | GRCh38 |
| NC_000011.9:g.59608814G>T , CM000673.1:g.59608814G>T | GRCh37 |
| NC_000011.8:g.59365390G>T | NCBI36 |
| NG_008120.1:g.9161C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005142.3:c.512-17C>A MANE Select | NP_005133.2:n.512-17C>A |
| ENST00000257248.3:c.512-17C>A MANE Select | ENSP00000257248.2:n.512-17C>A |
| NM_005142.2:c.512-17C>A | NP_005133.2:n.512-17C>A |
| ENST00000257248.2:c.512-17C>A | ENSP00000257248.2:n.512-17C>A |
| ENST00000525058.5:c.*479-17C>A | ENSP00000433196.1:n.*479-17C>A |
| XM_011544939.1:c.512-17C>A | XP_011543241.1:n.512-17C>A |
| XM_011544939.3:c.512-17C>A | XP_011543241.1:n.512-17C>A |