Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278188C= , CM000678.2:g.2278188C= | GRCh38 |
| NC_000016.9:g.2328189C= , CM000678.1:g.2328189C= | GRCh37 |
| NC_000016.8:g.2268190C= | NCBI36 |
| NG_011790.1:g.67559G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4718+100G= MANE Select | ENSP00000301732.5:n.4718+100G= | |
| ENST00000301732.9:c.4718+100G= | ENSP00000301732.5:n.4718+100G= | |
| ENST00000382381.7:c.4544+100G= | ENSP00000371818.3:n.4544+100G= | |
| NM_001089.2:c.4718+100G= | NP_001080.2:n.4718+100G= | |
| NM_001089.3:c.4718+100G= MANE Select | NP_001080.2:n.4718+100G= |