Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29063444G>A , CM000664.2:g.29063444G>A | GRCh38 |
| NC_000002.11:g.29286310G>A , CM000664.1:g.29286310G>A | GRCh37 |
| NC_000002.10:g.29139814G>A | NCBI36 |
| NG_021427.1:g.15818C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029883.3:c.*1425C>T MANE Select | NP_001025054.1:n.*1425C>T |
| ENST00000331664.6:c.*1425C>T MANE Select | ENSP00000332809.4:n.*1425C>T |
| NM_001029883.2:c.5292C>T | NP_001025054.1:n.5292C>T |
| ENST00000331664.5:c.5292C>T | ENSP00000332809.4:n.5292C>T |
| XM_011532826.1:c.*131-30C>T | XP_011531128.1:n.*131-30C>T |