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