Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32050818G>A , CM000684.2:g.32050818G>A | GRCh38 |
| NC_000022.10:g.32446805G>A , CM000684.1:g.32446805G>A | GRCh37 |
| NC_000022.9:g.30776805G>A | NCBI36 |
| NG_017045.1:g.12787G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.207+804G>A MANE Select | NP_000334.1:n.207+804G>A |
| ENST00000266088.9:c.207+804G>A MANE Select | ENSP00000266088.4:n.207+804G>A |
| NM_000343.3:c.207+804G>A | NP_000334.1:n.207+804G>A |
| ENST00000266088.8:c.207+804G>A | ENSP00000266088.4:n.207+804G>A |
| XM_011530331.1:c.207+804G>A | XP_011528633.1:n.207+804G>A |