Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30224622C>T , CM000679.2:g.30224622C>T | GRCh38 |
| NC_000017.10:g.28551640C>T , CM000679.1:g.28551640C>T | GRCh37 |
| NC_000017.9:g.25575766C>T | NCBI36 |
| NG_011747.2:g.16315G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650711.1:c.-220-1707G>A MANE Select | ENSP00000498537.1:n.-220-1707G>A | |
| ENST00000261707.7:c.-220-1707G>A | ENSP00000261707.3:n.-220-1707G>A | |
| ENST00000394821.2:c.-220-1707G>A | ENSP00000378298.2:n.-220-1707G>A | |
| ENST00000401766.6:c.-123-2541G>A | ENSP00000385822.2:n.-123-2541G>A | |
| NM_001045.5:c.-220-1707G>A | NP_001036.1:n.-220-1707G>A | |
| NM_001045.6:c.-220-1707G>A MANE Select | NP_001036.1:n.-220-1707G>A |