Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168494042C>G , CM000667.2:g.168494042C>G | GRCh38 |
| NC_000005.9:g.167921047C>G , CM000667.1:g.167921047C>G | GRCh37 |
| NC_000005.8:g.167853625C>G | NCBI36 |
| NG_041809.1:g.12585C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002887.4:c.478+40C>G MANE Select | NP_002878.2:n.478+40C>G |
| ENST00000231572.8:c.478+40C>G MANE Select | ENSP00000231572.3:n.478+40C>G |
| NM_002887.3:c.478+40C>G | NP_002878.2:n.478+40C>G |
| ENST00000231572.7:c.478+40C>G | ENSP00000231572.3:n.478+40C>G |
| ENST00000519346.1:n.343+40C>G | |
| ENST00000520013.5:c.370-508C>G | ENSP00000429030.1:n.370-508C>G |
| ENST00000521939.5:n.491+40C>G | |
| ENST00000522834.5:c.*80+40C>G | ENSP00000430035.1:n.*80+40C>G |