HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140333279T>C , CM000667.2:g.140333279T>C | GRCh38 |
NC_000005.9:g.139712864T>C , CM000667.1:g.139712864T>C | GRCh37 |
NC_000005.8:g.139693048T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230990.7:c.*1020A>G MANE Select | ENSP00000230990.6:n.*1020A>G | |
ENST00000230990.6:c.*1020A>G | ENSP00000230990.6:n.*1020A>G | |
NM_001945.2:c.*1020A>G | NP_001936.1:n.*1020A>G | |
NM_001945.3:c.*1020A>G MANE Select | NP_001936.1:n.*1020A>G |