Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42958181A= , CM000677.2:g.42958181A= | GRCh38 |
| NC_000015.9:g.43250379A= , CM000677.1:g.43250379A= | GRCh37 |
| NC_000015.8:g.41037671A= | NCBI36 |
| NG_012182.1:g.152908T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4758-91T= MANE Select | ENSP00000290650.4:n.4758-91T= | |
| ENST00000290650.8:c.4758-91T= | ENSP00000290650.4:n.4758-91T= | |
| NM_174916.2:c.4758-91T= | NP_777576.1:n.4758-91T= | |
| NM_174916.3:c.4758-91T= MANE Select | NP_777576.1:n.4758-91T= |