Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22125352T= , CM000663.2:g.22125352T= | GRCh38 |
| NC_000001.10:g.22451845T= , CM000663.1:g.22451845T= | GRCh37 |
| NC_000001.9:g.22324432T= | NCBI36 |
| NG_008974.1:g.22675A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290167.11:c.314-3776A= MANE Select | ENSP00000290167.5:n.314-3776A= | |
| ENST00000290167.10:c.314-3776A= | ENSP00000290167.5:n.314-3776A= | |
| NM_030761.4:c.314-3776A= | NP_110388.2:n.314-3776A= | |
| XM_011541597.1:c.380-3776A= | XP_011539899.1:n.380-3776A= | |
| XM_011541598.1:c.149-3776A= | XP_011539900.1:n.149-3776A= | |
| XM_011541597.2:c.380-3776A= | XP_011539899.1:n.380-3776A= | |
| XM_011541598.2:c.149-3776A= | XP_011539900.1:n.149-3776A= | |
| NM_030761.5:c.314-3776A= MANE Select | NP_110388.2:n.314-3776A= |