Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2315300A= , CM000678.2:g.2315300A= | GRCh38 |
| NC_000016.9:g.2365301A= , CM000678.1:g.2365301A= | GRCh37 |
| NC_000016.8:g.2305302A= | NCBI36 |
| NG_011790.1:g.30447T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.1111+1983T= MANE Select | ENSP00000301732.5:n.1111+1983T= | |
| ENST00000301732.9:c.1111+1983T= | ENSP00000301732.5:n.1111+1983T= | |
| ENST00000382381.7:c.1111+1983T= | ENSP00000371818.3:n.1111+1983T= | |
| ENST00000563623.5:n.1674+1983T= | ||
| NM_001089.2:c.1111+1983T= | NP_001080.2:n.1111+1983T= | |
| NM_001089.3:c.1111+1983T= MANE Select | NP_001080.2:n.1111+1983T= |