Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24797878T= , CM000666.2:g.24797878T= | GRCh38 |
| NC_000004.11:g.24799500T= , CM000666.1:g.24799500T= | GRCh37 |
| NC_000004.10:g.24408598T= | NCBI36 |
| NG_012213.1:g.7416T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003102.4:c.-16-1628T= MANE Select | NP_003093.2:n.-16-1628T= |
| ENST00000382120.4:c.-16-1628T= MANE Select | ENSP00000371554.3:n.-16-1628T= |
| NM_003102.2:c.-16-1628T= | NP_003093.2:n.-16-1628T= |
| NM_003102.3:c.-16-1628T= | NP_003093.2:n.-16-1628T= |
| ENST00000382120.3:c.-16-1628T= | ENSP00000371554.3:n.-16-1628T= |
| ENST00000598411.1:c.-16-1628T= | ENSP00000472134.1:n.-16-1628T= |
| XR_427488.1:n.175-1628T= |