Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30224629C>A , CM000679.2:g.30224629C>A | GRCh38 |
| NC_000017.10:g.28551647C>A , CM000679.1:g.28551647C>A | GRCh37 |
| NC_000017.9:g.25575773C>A | NCBI36 |
| NG_011747.2:g.16308G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001045.6:c.-220-1714G>T MANE Select | NP_001036.1:n.-220-1714G>T |
| ENST00000650711.1:c.-220-1714G>T MANE Select | ENSP00000498537.1:n.-220-1714G>T |
| NM_001045.5:c.-220-1714G>T | NP_001036.1:n.-220-1714G>T |
| ENST00000261707.7:c.-220-1714G>T | ENSP00000261707.3:n.-220-1714G>T |
| ENST00000394821.2:c.-220-1714G>T | ENSP00000378298.2:n.-220-1714G>T |
| ENST00000401766.6:c.-123-2548G>T | ENSP00000385822.2:n.-123-2548G>T |