Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.84399735C= , CM000663.2:g.84399735C= | GRCh38 |
| NC_000001.10:g.84865418C= , CM000663.1:g.84865418C= | GRCh37 |
| NC_000001.9:g.84638006C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370665.4:c.125+1046C= MANE Select | ENSP00000359699.3:n.125+1046C= | |
| ENST00000370665.3:c.125+1046C= | ENSP00000359699.3:n.125+1046C= | |
| NM_021233.2:c.125+1046C= | NP_067056.2:n.125+1046C= | |
| NM_021233.3:c.125+1046C= MANE Select | NP_067056.2:n.125+1046C= |