HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24146092C>T , CM000668.2:g.24146092C>T | GRCh38 |
NC_000006.11:g.24146320C>T , CM000668.1:g.24146320C>T | GRCh37 |
NC_000006.10:g.24254299C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378491.9:c.*146C>T MANE Select | ENSP00000367752.4:n.*146C>T | |
ENST00000378478.5:c.*146C>T | ENSP00000367739.2:n.*146C>T | |
ENST00000378491.8:c.*146C>T | ENSP00000367752.4:n.*146C>T | |
ENST00000468195.2:n.257-8679C>T | ||
NM_080723.4:c.*146C>T | NP_542454.3:n.*146C>T | |
NM_080723.5:c.*146C>T MANE Select | NP_542454.3:n.*146C>T |