Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30224704T>C , CM000679.2:g.30224704T>C | GRCh38 |
| NC_000017.10:g.28551722T>C , CM000679.1:g.28551722T>C | GRCh37 |
| NC_000017.9:g.25575848T>C | NCBI36 |
| NG_011747.2:g.16233A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.-220-1789A>G MANE Select | ENSP00000498537.1:n.-220-1789A>G | |
| ENST00000261707.7:c.-220-1789A>G | ENSP00000261707.3:n.-220-1789A>G | |
| ENST00000394821.2:c.-220-1789A>G | ENSP00000378298.2:n.-220-1789A>G | |
| ENST00000401766.6:c.-123-2623A>G | ENSP00000385822.2:n.-123-2623A>G | |
| NM_001045.5:c.-220-1789A>G | NP_001036.1:n.-220-1789A>G | |
| NM_001045.6:c.-220-1789A>G MANE Select | NP_001036.1:n.-220-1789A>G |