HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140333309G>A , CM000667.2:g.140333309G>A | GRCh38 |
NC_000005.9:g.139712894G>A , CM000667.1:g.139712894G>A | GRCh37 |
NC_000005.8:g.139693078G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230990.7:c.*990C>T MANE Select | ENSP00000230990.6:n.*990C>T | |
ENST00000230990.6:c.*990C>T | ENSP00000230990.6:n.*990C>T | |
NM_001945.2:c.*990C>T | NP_001936.1:n.*990C>T | |
NM_001945.3:c.*990C>T MANE Select | NP_001936.1:n.*990C>T |