Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31133898C= , CM000678.2:g.31133898C= | GRCh38 |
| NC_000016.9:g.31145219C= , CM000678.1:g.31145219C= | GRCh37 |
| NC_000016.8:g.31052720C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002773.5:c.104-510G= MANE Select | NP_002764.1:n.104-510G= |
| ENST00000317508.11:c.104-510G= MANE Select | ENSP00000319730.6:n.104-510G= |
| NM_002773.3:c.104-510G= | NP_002764.1:n.104-510G= |
| NM_002773.4:c.104-510G= | NP_002764.1:n.104-510G= |
| ENST00000317508.10:c.104-510G= | ENSP00000319730.6:n.104-510G= |
| ENST00000564025.1:n.333-510G= | |
| ENST00000567531.5:c.104-510G= | ENSP00000457673.1:n.104-510G= |
| ENST00000567797.1:c.86-510G= | ENSP00000458056.1:n.86-510G= |
| ENST00000568261.5:c.104-510G= | ENSP00000457750.1:n.104-510G= |