Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9116301C>G , CM000674.2:g.9116301C>G | GRCh38 |
| NC_000012.11:g.9268897C>G , CM000674.1:g.9268897C>G | GRCh37 |
| NC_000012.10:g.9160164C>G | NCBI36 |
| NG_011717.1:g.4662G>C | |
| NG_011717.2:g.4662G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017018683.1:c.*34-9073C>G | XP_016874172.1:n.*34-9073C>G | |
| XM_017018684.1:c.*34-18785C>G | XP_016874173.1:n.*34-18785C>G | |
| XM_017018685.1:c.*33+58135C>G | XP_016874174.1:n.*33+58135C>G |