Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21196677C>T , CM000674.2:g.21196677C>T | GRCh38 |
| NC_000012.11:g.21349611C>T , CM000674.1:g.21349611C>T | GRCh37 |
| NC_000012.10:g.21240878C>T | NCBI36 |
| NG_011745.1:g.70484C>T , LRG_1022:g.70484C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.728-269C>T MANE Select | NP_006437.3:n.728-269C>T |
| ENST00000256958.3:c.728-269C>T MANE Select | ENSP00000256958.2:n.728-269C>T |
| NM_006446.4:c.728-269C>T , LRG_1022t1:c.728-269C>T | NP_006437.3:n.728-269C>T |
| ENST00000256958.2:c.728-269C>T | ENSP00000256958.2:n.728-269C>T |