Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2856465T= , CM000686.2:g.2856465T= | GRCh38 |
| NC_000024.9:g.2724506T= , CM000686.1:g.2724506T= | GRCh37 |
| NC_000024.8:g.2784506T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001008.4:c.532+1694T= MANE Select | NP_000999.1:n.532+1694T= |
| ENST00000250784.13:c.532+1694T= MANE Select | ENSP00000250784.7:n.532+1694T= |
| NM_001008.3:c.532+1694T= | NP_000999.1:n.532+1694T= |
| ENST00000250784.12:c.532+1694T= | ENSP00000250784.7:n.532+1694T= |
| ENST00000430575.1:c.559+1694T= | ENSP00000415317.1:n.559+1694T= |
| ENST00000477725.1:n.676+1694T= | |
| ENST00000515575.1:n.42+1694T= |