HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94941805C>T , CM000672.2:g.94941805C>T | GRCh38 |
NC_000010.10:g.96701562C>T , CM000672.1:g.96701562C>T | GRCh37 |
NC_000010.9:g.96691552C>T | NCBI36 |
NG_008385.1:g.8148C>T | |
NG_008385.2:g.8648C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.169-53C>T MANE Select | ENSP00000260682.6:n.169-53C>T | |
ENST00000643112.1:c.169-53C>T | ENSP00000496202.1:n.169-53C>T | |
ENST00000645207.1:n.269C>T | ||
ENST00000260682.6:c.169-53C>T | ENSP00000260682.6:n.169-53C>T | |
ENST00000461906.1:n.194-53C>T | ||
NM_000771.3:c.169-53C>T | NP_000762.2:n.169-53C>T | |
NM_000771.4:c.169-53C>T MANE Select | NP_000762.2:n.169-53C>T |