Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104954208C>G , CM000668.2:g.104954208C>G | GRCh38 |
| NC_000006.11:g.105402083C>G , CM000668.1:g.105402083C>G | GRCh37 |
| NC_000006.10:g.105508776C>G | NCBI36 |
| NG_032815.1:g.2161C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000635857.1:c.67+3699C>G | ENSP00000489735.1:n.67+3699C>G |
| ENST00000637759.1:c.34+3699C>G | ENSP00000490468.1:n.34+3699C>G |
| XM_006715477.2:c.67+3699C>G | XP_006715540.2:n.67+3699C>G |
| XM_011535818.1:c.34+3699C>G | XP_011534120.1:n.34+3699C>G |
| XM_011535818.3:c.34+3699C>G | XP_011534120.1:n.34+3699C>G |