Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2860001A= , CM000686.2:g.2860001A= | GRCh38 |
| NC_000024.9:g.2728042A= , CM000686.1:g.2728042A= | GRCh37 |
| NC_000024.8:g.2788042A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.533-5087A= MANE Select | ENSP00000250784.7:n.533-5087A= | |
| ENST00000250784.12:c.533-5087A= | ENSP00000250784.7:n.533-5087A= | |
| ENST00000430575.1:c.560-5087A= | ENSP00000415317.1:n.560-5087A= | |
| ENST00000477725.1:n.677-5087A= | ||
| ENST00000515575.1:n.42+5230A= | ||
| NM_001008.3:c.533-5087A= | NP_000999.1:n.533-5087A= | |
| NM_001008.4:c.533-5087A= MANE Select | NP_000999.1:n.533-5087A= |