Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29062399G>A , CM000664.2:g.29062399G>A | GRCh38 |
| NC_000002.11:g.29285265G>A , CM000664.1:g.29285265G>A | GRCh37 |
| NC_000002.10:g.29138769G>A | NCBI36 |
| NG_021427.1:g.16863C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.*2470C>T MANE Select | ENSP00000332809.4:n.*2470C>T | |
| ENST00000331664.5:c.6337C>T | ENSP00000332809.4:n.6337C>T | |
| NM_001029883.2:c.6337C>T | NP_001025054.1:n.6337C>T | |
| XM_011532826.1:c.*382-744C>T | XP_011531128.1:n.*382-744C>T | |
| NM_001029883.3:c.*2470C>T MANE Select | NP_001025054.1:n.*2470C>T |