Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.203788C= , CM000673.2:g.203788C= | GRCh38 |
| NC_000011.9:g.203788C= , CM000673.1:g.203788C= | GRCh37 |
| NC_000011.8:g.193788C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001098787.2:c.*1514G= MANE Select | NP_001092257.1:n.*1514G= |
| ENST00000382762.8:c.*1514G= MANE Select | ENSP00000372210.3:n.*1514G= |
| NM_001098787.1:c.*1514G= | NP_001092257.1:n.*1514G= |
| NM_016526.4:c.*1682G= | NP_057610.2:n.*1682G= |
| NM_016526.5:c.*1682G= | NP_057610.2:n.*1682G= |
| ENST00000325147.13:c.*1682G= | ENSP00000339093.7:n.*1682G= |
| ENST00000382762.7:c.*1514G= | ENSP00000372210.3:n.*1514G= |
| ENST00000410108.5:c.168+1823G= | ENSP00000386558.1:n.168+1823G= |