HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177992635G>A , CM000667.2:g.177992635G>A | GRCh38 |
NC_000005.9:g.177419636G>A , CM000667.1:g.177419636G>A | GRCh37 |
NC_000005.8:g.177352242G>A | NCBI36 |
NG_015889.1:g.8608C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.*74C>T MANE Select | ENSP00000311290.2:n.*74C>T | |
NM_006261.4:c.*74C>T | NP_006252.3:n.*74C>T | |
NM_006261.5:c.*74C>T MANE Select | NP_006252.4:n.*74C>T |