Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.637622C>G , CM000673.2:g.637622C>G | GRCh38 |
| NC_000011.9:g.637622C>G , CM000673.1:g.637622C>G | GRCh37 |
| NC_000011.8:g.627622C>G | NCBI36 |
| NG_021241.1:g.5318C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000797.4:c.285+33C>G MANE Select | NP_000788.2:n.285+33C>G |
| ENST00000176183.6:c.285+33C>G MANE Select | ENSP00000176183.5:n.285+33C>G |
| NM_000797.3:c.285+33C>G | NP_000788.2:n.285+33C>G |
| ENST00000176183.5:c.285+33C>G | ENSP00000176183.5:n.285+33C>G |