Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52515040G>C , CM000674.2:g.52515040G>C | GRCh38 |
| NC_000012.11:g.52908824G>C , CM000674.1:g.52908824G>C | GRCh37 |
| NC_000012.10:g.51195091G>C | NCBI36 |
| NG_008297.1:g.10420C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1675C>G MANE Select | NP_000415.2:p.Arg559Gly |
| ENST00000252242.9:c.1675C>G MANE Select | ENSP00000252242.4:p.Arg559Gly |
| NM_000424.3:c.1675C>G | NP_000415.2:p.Arg559Gly |
| ENST00000252242.8:c.1675C>G | ENSP00000252242.4:p.Arg559Gly |
| ENST00000552952.1:n.600C>G |