Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30224429G= , CM000679.2:g.30224429G= | GRCh38 |
| NC_000017.10:g.28551447G= , CM000679.1:g.28551447G= | GRCh37 |
| NC_000017.9:g.25575573G= | NCBI36 |
| NG_011747.2:g.16508C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.-220-1514C= MANE Select | ENSP00000498537.1:n.-220-1514C= | |
| ENST00000261707.7:c.-220-1514C= | ENSP00000261707.3:n.-220-1514C= | |
| ENST00000394821.2:c.-220-1514C= | ENSP00000378298.2:n.-220-1514C= | |
| ENST00000401766.6:c.-123-2348C= | ENSP00000385822.2:n.-123-2348C= | |
| NM_001045.5:c.-220-1514C= | NP_001036.1:n.-220-1514C= | |
| NM_001045.6:c.-220-1514C= MANE Select | NP_001036.1:n.-220-1514C= |