HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717816C>T , CM000674.2:g.12717816C>T | GRCh38 |
NC_000012.11:g.12870750C>T , CM000674.1:g.12870750C>T | GRCh37 |
NC_000012.10:g.12762017C>T | NCBI36 |
NG_016341.1:g.5449C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.-24C>T | ENSP00000507272.1:n.-24C>T | |
ENST00000682620.1:n.1631-1009C>T | ||
ENST00000684771.1:n.585-1009C>T | ||
ENST00000228872.9:c.-24C>T MANE Select | ENSP00000228872.4:n.-24C>T | |
ENST00000228872.8:c.-24C>T | ENSP00000228872.4:n.-24C>T | |
ENST00000477087.1:n.155-1009C>T | ||
NM_004064.4:c.-24C>T | NP_004055.1:n.-24C>T | |
NM_004064.5:c.-24C>T MANE Select | NP_004055.1:n.-24C>T |