Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610202C= , CM000668.2:g.1610202C= | GRCh38 |
| NC_000006.11:g.1610437C= , CM000668.1:g.1610437C= | GRCh37 |
| NC_000006.10:g.1555436C= | NCBI36 |
| NG_009368.1:g.4757C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001453.3:c.-244C= MANE Select | NP_001444.2:n.-244C= |
| ENST00000645831.2:c.-244C= MANE Select | ENSP00000493906.1:n.-244C= |
| ENST00000380874.3:c.-244C= | ENSP00000370256.2:n.-244C= |