Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32110027G>A , CM000684.2:g.32110027G>A | GRCh38 |
| NC_000022.10:g.32506014G>A , CM000684.1:g.32506014G>A | GRCh37 |
| NC_000022.9:g.30836014G>A | NCBI36 |
| NG_017045.1:g.71996G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.1809G>A MANE Select | NP_000334.1:p.Arg603= |
| ENST00000266088.9:c.1809G>A MANE Select | ENSP00000266088.4:p.Arg603= |
| NM_000343.3:c.1809G>A | NP_000334.1:p.Arg603= |
| NM_001256314.1:c.1428G>A | NP_001243243.1:p.Arg476= |
| NM_001256314.2:c.1428G>A | NP_001243243.1:p.Arg476= |
| ENST00000266088.8:c.1809G>A | ENSP00000266088.4:p.Arg603= |
| ENST00000543737.2:c.1428G>A | ENSP00000444898.1:p.Arg476= |
| XR_938172.1:n.487-3085C>T | |
| XR_938172.2:n.491-3085C>T | |
| XR_938173.1:n.487-3085C>T | |
| XR_938174.1:n.486+9828C>T |