Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71938935A= , CM000674.2:g.71938935A= | GRCh38 |
| NC_000012.11:g.72332715A= , CM000674.1:g.72332715A= | GRCh37 |
| NC_000012.10:g.70618982A= | NCBI36 |
| NG_008279.1:g.5090A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.-52A= MANE Select | NP_775489.2:n.-52A= |
| ENST00000333850.4:c.-52A= MANE Select | ENSP00000329093.3:n.-52A= |
| NM_173353.3:c.-52A= | NP_775489.2:n.-52A= |
| ENST00000333850.3:c.-52A= | ENSP00000329093.3:n.-52A= |
| XR_001748575.1:n.49A= | |
| XR_245894.2:n.49A= |