Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63962219T= , CM000667.2:g.63962219T= | GRCh38 |
| NC_000005.9:g.63258046T= , CM000667.1:g.63258046T= | GRCh37 |
| NC_000005.8:g.63293802T= | NCBI36 |
| NG_032816.1:g.5074A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.-500A= MANE Select | ENSP00000316244.4:n.-500A= | |
| ENST00000506598.1:c.-387-113A= | ENSP00000423433.1:n.-387-113A= | |
| NM_000524.3:c.-500A= | NP_000515.2:n.-500A= | |
| NM_000524.4:c.-500A= MANE Select | NP_000515.2:n.-500A= |