Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53338107G= , CM000674.2:g.53338107G= | GRCh38 |
| NC_000012.11:g.53731891G= , CM000674.1:g.53731891G= | GRCh37 |
| NC_000012.10:g.52018158G= | NCBI36 |
| NG_023391.1:g.3114C= | |
| NG_023391.2:g.11687C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001300837.1:c.-271-1724C= | NP_001287766.1:n.-271-1724C= |
| NM_001300837.2:c.-271-1724C= | NP_001287766.1:n.-271-1724C= |
| ENST00000547755.1:c.-34+7007C= | ENSP00000449355.1:n.-34+7007C= |
| XM_011537900.1:c.-274-1721C= | XP_011536202.1:n.-274-1721C= |
| XM_011537900.2:c.-274-1721C= | XP_011536202.1:n.-274-1721C= |
| XM_011537901.1:c.-34+6344C= | XP_011536203.1:n.-34+6344C= |