HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140333321T>C , CM000667.2:g.140333321T>C | GRCh38 |
NC_000005.9:g.139712906T>C , CM000667.1:g.139712906T>C | GRCh37 |
NC_000005.8:g.139693090T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230990.7:c.*978A>G MANE Select | ENSP00000230990.6:n.*978A>G | |
ENST00000230990.6:c.*978A>G | ENSP00000230990.6:n.*978A>G | |
NM_001945.2:c.*978A>G | NP_001936.1:n.*978A>G | |
NM_001945.3:c.*978A>G MANE Select | NP_001936.1:n.*978A>G |