Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21224625G= , CM000674.2:g.21224625G= | GRCh38 |
| NC_000012.11:g.21377559G= , CM000674.1:g.21377559G= | GRCh37 |
| NC_000012.10:g.21268826G= | NCBI36 |
| NG_011745.1:g.98432G= , LRG_1022:g.98432G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.1748-97G= MANE Select | NP_006437.3:n.1748-97G= |
| ENST00000256958.3:c.1748-97G= MANE Select | ENSP00000256958.2:n.1748-97G= |
| NM_006446.4:c.1748-97G= , LRG_1022t1:c.1748-97G= | NP_006437.3:n.1748-97G= |
| ENST00000256958.2:c.1748-97G= | ENSP00000256958.2:n.1748-97G= |