HGVS | Genome Assembly |
---|---|
NC_000016.10:g.176712C>T , CM000678.2:g.176712C>T | GRCh38 |
NC_000016.9:g.226711C>T , CM000678.1:g.226711C>T | GRCh37 |
NC_000016.8:g.166711C>T | NCBI36 |
NG_000006.1:g.37575C>T | |
NG_059186.1:g.5062C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320868.9:c.-5C>T MANE Select | ENSP00000322421.5:n.-5C>T | |
ENST00000397797.1:c.-52C>T | ENSP00000380899.1:n.-52C>T | |
ENST00000472694.1:n.15C>T | ||
NM_000558.4:c.-5C>T | NP_000549.1:n.-5C>T | |
NM_000558.5:c.-5C>T MANE Select | NP_000549.1:n.-5C>T |