Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610017C>A , CM000668.2:g.1610017C>A | GRCh38 |
| NC_000006.11:g.1610252C>A , CM000668.1:g.1610252C>A | GRCh37 |
| NC_000006.10:g.1555251C>A | NCBI36 |
| NG_009368.1:g.4572C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001453.3:c.-429C>A MANE Select | NP_001444.2:n.-429C>A |
| ENST00000645831.2:c.-429C>A MANE Select | ENSP00000493906.1:n.-429C>A |
| ENST00000380874.3:c.-429C>A | ENSP00000370256.2:n.-429C>A |