Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2863846C>T , CM000686.2:g.2863846C>T | GRCh38 |
| NC_000024.9:g.2731887C>T , CM000686.1:g.2731887C>T | GRCh37 |
| NC_000024.8:g.2791887C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000250784.13:c.533-1242C>T MANE Select | ENSP00000250784.7:n.533-1242C>T | |
| ENST00000250784.12:c.533-1242C>T | ENSP00000250784.7:n.533-1242C>T | |
| ENST00000430575.1:c.560-1242C>T | ENSP00000415317.1:n.560-1242C>T | |
| ENST00000477725.1:n.677-1242C>T | ||
| ENST00000515575.1:n.42+9075C>T | ||
| NM_001008.3:c.533-1242C>T | NP_000999.1:n.533-1242C>T | |
| NM_001008.4:c.533-1242C>T MANE Select | NP_000999.1:n.533-1242C>T |