Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2299332C= , CM000678.2:g.2299332C= | GRCh38 |
| NC_000016.9:g.2349333C= , CM000678.1:g.2349333C= | GRCh37 |
| NC_000016.8:g.2289334C= | NCBI36 |
| NG_011790.1:g.46415G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.1741+71G= MANE Select | NP_001080.2:n.1741+71G= |
| ENST00000301732.10:c.1741+71G= MANE Select | ENSP00000301732.5:n.1741+71G= |
| NM_001089.2:c.1741+71G= | NP_001080.2:n.1741+71G= |
| ENST00000301732.9:c.1741+71G= | ENSP00000301732.5:n.1741+71G= |
| ENST00000382381.7:c.1567+71G= | ENSP00000371818.3:n.1567+71G= |
| ENST00000563623.5:n.2304+71G= |