Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84389428G= , CM000678.2:g.84389428G= | GRCh38 |
| NC_000016.9:g.84423034G= , CM000678.1:g.84423034G= | GRCh37 |
| NC_000016.8:g.82980535G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014861.4:c.100-9071G= MANE Select | NP_055676.3:n.100-9071G= |
| ENST00000262429.9:c.100-9071G= MANE Select | ENSP00000262429.4:n.100-9071G= |
| NM_001286527.2:c.100-9071G= | NP_001273456.2:n.100-9071G= |
| NM_001286527.3:c.100-9071G= | NP_001273456.2:n.100-9071G= |
| NM_014861.3:c.100-9071G= | NP_055676.3:n.100-9071G= |
| ENST00000262429.8:c.100-9071G= | ENSP00000262429.4:n.100-9071G= |
| ENST00000416219.6:c.100-9071G= | ENSP00000397925.2:n.100-9071G= |
| XR_001752045.1:n.193-9071G= |