HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47283100T>G , CM000679.2:g.47283100T>G | GRCh38 |
NC_000017.10:g.45360466T>G , CM000679.1:g.45360466T>G | GRCh37 |
NC_000017.9:g.42715465T>G | NCBI36 |
NG_008332.2:g.34259T>G , LRG_481:g.34259T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.166-254T>G | ENSP00000513002.1:n.166-254T>G | |
ENST00000559488.7:c.166-254T>G MANE Select | ENSP00000452786.2:n.166-254T>G | |
ENST00000559488.5:c.166-254T>G | ENSP00000452786.1:n.166-254T>G | |
ENST00000560629.1:c.131-254T>G | ||
ENST00000571680.1:c.166-254T>G | ENSP00000461626.1:n.166-254T>G | |
NM_000212.2:c.166-254T>G , LRG_481t1:c.166-254T>G | NP_000203.2:n.166-254T>G | |
NM_000212.3:c.166-254T>G MANE Select | NP_000203.2:n.166-254T>G |