HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717788T>G , CM000674.2:g.12717788T>G | GRCh38 |
NC_000012.11:g.12870722T>G , CM000674.1:g.12870722T>G | GRCh37 |
NC_000012.10:g.12761989T>G | NCBI36 |
NG_016341.1:g.5421T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.-52T>G | ENSP00000507272.1:n.-52T>G | |
ENST00000682620.1:n.1631-1037T>G | ||
ENST00000684771.1:n.585-1037T>G | ||
ENST00000228872.9:c.-52T>G MANE Select | ENSP00000228872.4:n.-52T>G | |
ENST00000228872.8:c.-52T>G | ENSP00000228872.4:n.-52T>G | |
ENST00000477087.1:n.155-1037T>G | ||
NM_004064.4:c.-52T>G | NP_004055.1:n.-52T>G | |
NM_004064.5:c.-52T>G MANE Select | NP_004055.1:n.-52T>G |