Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30224524C= , CM000679.2:g.30224524C= | GRCh38 |
| NC_000017.10:g.28551542C= , CM000679.1:g.28551542C= | GRCh37 |
| NC_000017.9:g.25575668C= | NCBI36 |
| NG_011747.2:g.16413G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001045.6:c.-220-1609G= MANE Select | NP_001036.1:n.-220-1609G= |
| ENST00000650711.1:c.-220-1609G= MANE Select | ENSP00000498537.1:n.-220-1609G= |
| NM_001045.5:c.-220-1609G= | NP_001036.1:n.-220-1609G= |
| ENST00000261707.7:c.-220-1609G= | ENSP00000261707.3:n.-220-1609G= |
| ENST00000394821.2:c.-220-1609G= | ENSP00000378298.2:n.-220-1609G= |
| ENST00000401766.6:c.-123-2443G= | ENSP00000385822.2:n.-123-2443G= |