Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.21875334C>T , CM000673.2:g.21875334C>T | GRCh38 |
| NC_000011.9:g.21896880C>T , CM000673.1:g.21896880C>T | GRCh37 |
| NC_000011.8:g.21853456C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648804.1:n.269+18923C>T | |
| ENST00000682428.1:n.197-57015C>T | |
| XR_001748151.1:n.270+18923C>T | |
| XR_001748152.1:n.270+18923C>T | |
| XR_001748153.1:n.338+18923C>T | |
| XR_428887.2:n.207+80430C>T | |
| XR_931110.1:n.207+80430C>T | |
| XR_931110.2:n.199+80430C>T | |
| XR_931111.1:n.113+18923C>T | |
| XR_931111.2:n.113+18923C>T | |
| XR_931114.1:n.113+18923C>T |