Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124744898C>T , CM000665.2:g.124744898C>T | GRCh38 |
| NC_000003.11:g.124463745C>T , CM000665.1:g.124463745C>T | GRCh37 |
| NC_000003.10:g.125946435C>T | NCBI36 |
| NG_017037.1:g.19533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.*814C>T MANE Select | ENSP00000232607.2:n.*814C>T | |
| ENST00000232607.6:c.*814C>T | ENSP00000232607.2:n.*814C>T | |
| NM_000373.3:c.*814C>T | NP_000364.1:n.*814C>T | |
| NR_033434.1:n.2209C>T | ||
| NR_033437.1:n.2462C>T | ||
| XR_001740253.2:n.2491C>T | ||
| NM_000373.4:c.*814C>T MANE Select | NP_000364.1:n.*814C>T | |
| NR_033434.2:n.2123C>T | ||
| NR_033437.2:n.2376C>T |