Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183297047C= , CM000663.2:g.183297047C= | GRCh38 |
| NC_000001.10:g.183266182C= , CM000663.1:g.183266182C= | GRCh37 |
| NC_000001.9:g.181532805C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015039.4:c.86-3254G= MANE Select | NP_055854.1:n.86-3254G= |
| ENST00000287713.7:c.86-3254G= MANE Select | ENSP00000287713.6:n.86-3254G= |
| NM_015039.3:c.86-3254G= | NP_055854.1:n.86-3254G= |
| NM_170706.3:c.71-3254G= | NP_733820.1:n.71-3254G= |
| NM_170706.4:c.71-3254G= | NP_733820.1:n.71-3254G= |
| ENST00000287713.6:c.86-3254G= | ENSP00000287713.6:n.86-3254G= |
| ENST00000294868.8:c.71-3254G= | ENSP00000294868.4:n.71-3254G= |
| XM_024454277.1:c.-119-3254G= | XP_024310045.1:n.-119-3254G= |