HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140333288A>G , CM000667.2:g.140333288A>G | GRCh38 |
NC_000005.9:g.139712873A>G , CM000667.1:g.139712873A>G | GRCh37 |
NC_000005.8:g.139693057A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230990.7:c.*1011T>C MANE Select | ENSP00000230990.6:n.*1011T>C | |
ENST00000230990.6:c.*1011T>C | ENSP00000230990.6:n.*1011T>C | |
NM_001945.2:c.*1011T>C | NP_001936.1:n.*1011T>C | |
NM_001945.3:c.*1011T>C MANE Select | NP_001936.1:n.*1011T>C |