HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94941796C>T , CM000672.2:g.94941796C>T | GRCh38 |
NC_000010.10:g.96701553C>T , CM000672.1:g.96701553C>T | GRCh37 |
NC_000010.9:g.96691543C>T | NCBI36 |
NG_008385.1:g.8139C>T | |
NG_008385.2:g.8639C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.169-62C>T MANE Select | ENSP00000260682.6:n.169-62C>T | |
ENST00000643112.1:c.169-62C>T | ENSP00000496202.1:n.169-62C>T | |
ENST00000645207.1:n.260C>T | ||
ENST00000260682.6:c.169-62C>T | ENSP00000260682.6:n.169-62C>T | |
ENST00000461906.1:n.194-62C>T | ||
NM_000771.3:c.169-62C>T | NP_000762.2:n.169-62C>T | |
NM_000771.4:c.169-62C>T MANE Select | NP_000762.2:n.169-62C>T |