HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169549679G>T , CM000663.2:g.169549679G>T | GRCh38 |
NC_000001.10:g.169518917G>T , CM000663.1:g.169518917G>T | GRCh37 |
NC_000001.9:g.167785541G>T | NCBI36 |
NG_011806.1:g.41853C>A , LRG_553:g.41853C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.1611+122C>A MANE Select | ENSP00000356771.3:n.1611+122C>A | |
ENST00000367796.3:c.1611+122C>A | ENSP00000356770.3:n.1611+122C>A | |
ENST00000367797.7:c.1611+122C>A | ENSP00000356771.3:n.1611+122C>A | |
NM_000130.4:c.1611+122C>A , LRG_553t1:c.1611+122C>A | NP_000121.2:n.1611+122C>A | |
XM_017000660.2:c.1200+122C>A | XP_016856149.1:n.1200+122C>A | |
NM_000130.5:c.1611+122C>A MANE Select | NP_000121.2:n.1611+122C>A |