HGVS | Genome Assembly |
---|---|
NC_000016.10:g.172908C>T , CM000678.2:g.172908C>T | GRCh38 |
NC_000016.9:g.222907C>T , CM000678.1:g.222907C>T | GRCh37 |
NC_000016.8:g.162907C>T | NCBI36 |
NG_000006.1:g.33771C>T | |
NG_059186.1:g.1258C>T | |
NG_059271.1:g.5062C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.-5C>T MANE Select | ENSP00000251595.6:n.-5C>T | |
ENST00000251595.10:c.-5C>T | ENSP00000251595.6:n.-5C>T | |
ENST00000397806.1:c.-52C>T | ENSP00000380908.1:n.-52C>T | |
ENST00000482565.1:n.15C>T | ||
NM_000517.4:c.-5C>T | NP_000508.1:n.-5C>T | |
NM_000517.6:c.-5C>T MANE Select | NP_000508.1:n.-5C>T |