HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27924754C>G , CM000675.2:g.27924754C>G | GRCh38 |
NC_000013.10:g.28498891C>G , CM000675.1:g.28498891C>G | GRCh37 |
NC_000013.9:g.27396891C>G | NCBI36 |
NG_008183.1:g.9724C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.*53C>G MANE Select | ENSP00000370421.4:n.*53C>G | |
ENST00000381033.4:c.*53C>G | ENSP00000370421.4:n.*53C>G | |
NM_000209.3:c.*53C>G | NP_000200.1:n.*53C>G | |
NM_000209.4:c.*53C>G MANE Select | NP_000200.1:n.*53C>G |