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