Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866969C>T , CM000686.2:g.2866969C>T | GRCh38 |
| NC_000024.9:g.2735010C>T , CM000686.1:g.2735010C>T | GRCh37 |
| NC_000024.8:g.2795010C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.*75C>T MANE Select | ENSP00000250784.7:n.*75C>T | |
| ENST00000250784.12:c.*75C>T | ENSP00000250784.7:n.*75C>T | |
| ENST00000515575.1:n.42+12198C>T | ||
| NM_001008.4:c.*75C>T MANE Select | NP_000999.1:n.*75C>T |