Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155461252C>T , CM000669.2:g.155461252C>T | GRCh38 |
| NC_000007.13:g.155253947C>T , CM000669.1:g.155253947C>T | GRCh37 |
| NC_000007.12:g.154946708C>T | NCBI36 |
| NG_007124.1:g.9533C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297375.4:c.686-1119C>T MANE Select | ENSP00000297375.4:n.686-1119C>T | |
| NM_001427.3:c.686-1119C>T | NP_001418.2:n.686-1119C>T | |
| NM_001427.4:c.686-1119C>T MANE Select | NP_001418.2:n.686-1119C>T |