Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84017290G= , CM000678.2:g.84017290G= | GRCh38 |
| NC_000016.9:g.84050895G= , CM000678.1:g.84050895G= | GRCh37 |
| NC_000016.8:g.82608396G= | NCBI36 |
| NG_034136.1:g.29868C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080442.3:c.806-3C= MANE Select | NP_001073911.1:n.806-3C= |
| ENST00000299709.8:c.806-3C= MANE Select | ENSP00000299709.3:n.806-3C= |
| NM_001080442.2:c.806-3C= | NP_001073911.1:n.806-3C= |
| ENST00000299709.7:c.806-3C= | ENSP00000299709.3:n.806-3C= |
| XM_011522872.1:c.806-3C= | XP_011521174.1:n.806-3C= |
| XM_017022946.1:c.806-3C= | XP_016878435.1:n.806-3C= |