Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738726G>A , CM000674.2:g.120738726G>A | GRCh38 |
| NC_000012.11:g.121176529G>A , CM000674.1:g.121176529G>A | GRCh37 |
| NC_000012.10:g.119660912G>A | NCBI36 |
| NG_007991.1:g.17959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.933+56G>A MANE Select | ENSP00000242592.4:n.933+56G>A | |
| ENST00000242592.8:c.933+56G>A | ENSP00000242592.4:n.933+56G>A | |
| ENST00000411593.2:c.921+56G>A | ENSP00000401045.2:n.921+56G>A | |
| NM_000017.3:c.933+56G>A | NP_000008.1:n.933+56G>A | |
| NM_001302554.1:c.921+56G>A | NP_001289483.1:n.921+56G>A | |
| NM_000017.4:c.933+56G>A MANE Select | NP_000008.1:n.933+56G>A | |
| NM_001302554.2:c.921+56G>A | NP_001289483.1:n.921+56G>A |