Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32049863C>A , CM000684.2:g.32049863C>A | GRCh38 |
| NC_000022.10:g.32445850C>A , CM000684.1:g.32445850C>A | GRCh37 |
| NC_000022.9:g.30775850C>A | NCBI36 |
| NG_017045.1:g.11832C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.136-80C>A MANE Select | ENSP00000266088.4:n.136-80C>A | |
| ENST00000266088.8:c.136-80C>A | ENSP00000266088.4:n.136-80C>A | |
| NM_000343.3:c.136-80C>A | NP_000334.1:n.136-80C>A | |
| XM_011530331.1:c.136-80C>A | XP_011528633.1:n.136-80C>A | |
| NM_000343.4:c.136-80C>A MANE Select | NP_000334.1:n.136-80C>A |