Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104944870C>T , CM000668.2:g.104944870C>T | GRCh38 |
| NC_000006.11:g.105392745C>T , CM000668.1:g.105392745C>T | GRCh37 |
| NC_000006.10:g.105499438C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000635857.1:c.19-5591C>T | ENSP00000489735.1:n.19-5591C>T |
| ENST00000637759.1:c.-16+3858C>T | ENSP00000490468.1:n.-16+3858C>T |
| XM_006715477.2:c.19-5591C>T | XP_006715540.2:n.19-5591C>T |
| XM_011535818.1:c.-16+3858C>T | XP_011534120.1:n.-16+3858C>T |
| XM_011535818.3:c.-16+3858C>T | XP_011534120.1:n.-16+3858C>T |