Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30224452A= , CM000679.2:g.30224452A= | GRCh38 |
| NC_000017.10:g.28551470A= , CM000679.1:g.28551470A= | GRCh37 |
| NC_000017.9:g.25575596A= | NCBI36 |
| NG_011747.2:g.16485T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001045.6:c.-220-1537T= MANE Select | NP_001036.1:n.-220-1537T= |
| ENST00000650711.1:c.-220-1537T= MANE Select | ENSP00000498537.1:n.-220-1537T= |
| NM_001045.5:c.-220-1537T= | NP_001036.1:n.-220-1537T= |
| ENST00000261707.7:c.-220-1537T= | ENSP00000261707.3:n.-220-1537T= |
| ENST00000394821.2:c.-220-1537T= | ENSP00000378298.2:n.-220-1537T= |
| ENST00000401766.6:c.-123-2371T= | ENSP00000385822.2:n.-123-2371T= |