Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49951482A>G , CM000674.2:g.49951482A>G | GRCh38 |
| NC_000012.11:g.50345265A>G , CM000674.1:g.50345265A>G | GRCh37 |
| NC_000012.10:g.48631532A>G | NCBI36 |
| NG_008913.1:g.5742A>G , LRG_717:g.5742A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000486.6:c.360+292A>G MANE Select | NP_000477.1:n.360+292A>G |
| ENST00000199280.4:c.360+292A>G MANE Select | ENSP00000199280.3:n.360+292A>G |
| NM_000486.5:c.360+292A>G , LRG_717t1:c.360+292A>G | NP_000477.1:n.360+292A>G |
| ENST00000199280.3:c.360+292A>G | ENSP00000199280.3:n.360+292A>G |
| ENST00000550862.1:c.360+292A>G | ENSP00000450022.1:n.360+292A>G |
| ENST00000551526.5:c.360+292A>G | ENSP00000447148.1:n.360+292A>G |