Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139475648A>C , CM000666.2:g.139475648A>C | GRCh38 |
| NC_000004.11:g.140396802A>C , CM000666.1:g.140396802A>C | GRCh37 |
| NC_000004.10:g.140616252A>C | NCBI36 |
| NG_051587.1:g.27417A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031296.3:c.*2522A>C MANE Select | NP_112586.1:n.*2522A>C |
| ENST00000305626.6:c.*2522A>C MANE Select | ENSP00000306496.5:n.*2522A>C |
| NM_031296.1:c.*2522A>C | NP_112586.1:n.*2522A>C |
| NM_031296.2:c.*2522A>C | NP_112586.1:n.*2522A>C |
| ENST00000305626.5:c.*2522A>C | ENSP00000306496.5:n.*2522A>C |
| ENST00000652268.1:c.*2522A>C | ENSP00000498778.1:n.*2522A>C |
| XM_011532299.1:c.*2522A>C | XP_011530601.1:n.*2522A>C |