Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30224973T= , CM000679.2:g.30224973T= | GRCh38 |
| NC_000017.10:g.28551991T= , CM000679.1:g.28551991T= | GRCh37 |
| NC_000017.9:g.25576117T= | NCBI36 |
| NG_011747.2:g.15964A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.-220-2058A= MANE Select | ENSP00000498537.1:n.-220-2058A= | |
| ENST00000261707.7:c.-220-2058A= | ENSP00000261707.3:n.-220-2058A= | |
| ENST00000394821.2:c.-220-2058A= | ENSP00000378298.2:n.-220-2058A= | |
| ENST00000401766.6:c.-123-2892A= | ENSP00000385822.2:n.-123-2892A= | |
| NM_001045.5:c.-220-2058A= | NP_001036.1:n.-220-2058A= | |
| NM_001045.6:c.-220-2058A= MANE Select | NP_001036.1:n.-220-2058A= |