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