Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34454992C>A , CM000673.2:g.34454992C>A | GRCh38 |
| NC_000011.9:g.34476539C>A , CM000673.1:g.34476539C>A | GRCh37 |
| NC_000011.8:g.34433115C>A | NCBI36 |
| NG_013339.1:g.21068C>A | |
| NG_013339.2:g.21068C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001752.4:c.712-1019C>A MANE Select | NP_001743.1:n.712-1019C>A |
| ENST00000241052.5:c.712-1019C>A MANE Select | ENSP00000241052.4:n.712-1019C>A |
| NM_001752.3:c.712-1019C>A | NP_001743.1:n.712-1019C>A |
| ENST00000241052.4:c.712-1019C>A | ENSP00000241052.4:n.712-1019C>A |
| ENST00000528104.2:n.82-1019C>A | |
| ENST00000650153.1:c.626-1019C>A |