Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72722374G= , CM000673.2:g.72722374G= | GRCh38 |
| NC_000011.9:g.72433419G= , CM000673.1:g.72433419G= | GRCh37 |
| NC_000011.8:g.72111067G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.509+4246C= MANE Select | ENSP00000377233.3:n.509+4246C= | |
| ENST00000359373.9:c.509+4246C= | ENSP00000352332.5:n.509+4246C= | |
| ENST00000393609.7:c.509+4246C= | ENSP00000377233.3:n.509+4246C= | |
| NM_001040118.2:c.509+4246C= | NP_001035207.1:n.509+4246C= | |
| NM_001040118.3:c.509+4246C= MANE Select | NP_001035207.1:n.509+4246C= |