Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68309787C>A , CM000673.2:g.68309787C>A | GRCh38 |
| NC_000011.9:g.68077255C>A , CM000673.1:g.68077255C>A | GRCh37 |
| NC_000011.8:g.67833831C>A | NCBI36 |
| NG_015835.1:g.2148C>A | |
| NG_015835.2:g.2148C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011545029.1:c.118+10789C>A | XP_011543331.1:n.118+10789C>A | |
| XM_011545030.1:c.118+10789C>A | XP_011543332.1:n.118+10789C>A | |
| XM_011545031.1:c.118+10789C>A | XP_011543333.1:n.118+10789C>A | |
| XR_949925.1:n.133+10789C>A | ||
| XR_949926.1:n.133+10789C>A | ||
| XR_001747874.1:n.133+10789C>A | ||
| XR_949925.2:n.133+10789C>A | ||
| XR_949926.2:n.133+10789C>A |