Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23082290A= , CM000682.2:g.23082290A= | GRCh38 |
| NC_000020.10:g.23062927A= , CM000682.1:g.23062927A= | GRCh37 |
| NC_000020.9:g.23010927A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012072.4:c.*1660T= MANE Select | NP_036204.2:n.*1660T= |
| ENST00000246006.5:c.*1660T= MANE Select | ENSP00000246006.4:n.*1660T= |
| NM_012072.3:c.*1660T= | NP_036204.2:n.*1660T= |
| ENST00000246006.4:c.*1660T= | ENSP00000246006.4:n.*1660T= |
| XR_001754208.2:n.2965+1292T= |