Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866668G>T , CM000686.2:g.2866668G>T | GRCh38 |
| NC_000024.9:g.2734709G>T , CM000686.1:g.2734709G>T | GRCh37 |
| NC_000024.8:g.2794709G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.691-125G>T MANE Select | ENSP00000250784.7:n.691-125G>T | |
| ENST00000250784.12:c.691-125G>T | ENSP00000250784.7:n.691-125G>T | |
| ENST00000430575.1:c.718-125G>T | ENSP00000415317.1:n.718-125G>T | |
| ENST00000477725.1:n.835-125G>T | ||
| ENST00000515575.1:n.42+11897G>T | ||
| NM_001008.3:c.691-125G>T | NP_000999.1:n.691-125G>T | |
| NM_001008.4:c.691-125G>T MANE Select | NP_000999.1:n.691-125G>T |