Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21225087G= , CM000674.2:g.21225087G= | GRCh38 |
| NC_000012.11:g.21378021G= , CM000674.1:g.21378021G= | GRCh37 |
| NC_000012.10:g.21269288G= | NCBI36 |
| NG_011745.1:g.98894G= , LRG_1022:g.98894G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.1865+248G= MANE Select | NP_006437.3:n.1865+248G= |
| ENST00000256958.3:c.1865+248G= MANE Select | ENSP00000256958.2:n.1865+248G= |
| NM_006446.4:c.1865+248G= , LRG_1022t1:c.1865+248G= | NP_006437.3:n.1865+248G= |
| ENST00000256958.2:c.1865+248G= | ENSP00000256958.2:n.1865+248G= |