HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16992767C>G , CM000670.2:g.16992767C>G | GRCh38 |
NC_000008.10:g.16850276C>G , CM000670.1:g.16850276C>G | GRCh37 |
NC_000008.9:g.16894647C>G | NCBI36 |
NG_015978.1:g.14399G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000180166.6:c.*305G>C MANE Select | ENSP00000180166.5:n.*305G>C | |
ENST00000180166.5:c.*305G>C | ENSP00000180166.5:n.*305G>C | |
NM_019851.3:c.*305G>C MANE Select | NP_062825.1:n.*305G>C |