Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9116243G>A , CM000674.2:g.9116243G>A | GRCh38 |
| NC_000012.11:g.9268839G>A , CM000674.1:g.9268839G>A | GRCh37 |
| NC_000012.10:g.9160106G>A | NCBI36 |
| NG_011717.1:g.4720C>T | |
| NG_011717.2:g.4720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017018683.1:c.*34-9131G>A | XP_016874172.1:n.*34-9131G>A | |
| XM_017018684.1:c.*34-18843G>A | XP_016874173.1:n.*34-18843G>A | |
| XM_017018685.1:c.*33+58077G>A | XP_016874174.1:n.*33+58077G>A |