HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169549684C>A , CM000663.2:g.169549684C>A | GRCh38 |
NC_000001.10:g.169518922C>A , CM000663.1:g.169518922C>A | GRCh37 |
NC_000001.9:g.167785546C>A | NCBI36 |
NG_011806.1:g.41848G>T , LRG_553:g.41848G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.1611+117G>T MANE Select | ENSP00000356771.3:n.1611+117G>T | |
ENST00000367796.3:c.1611+117G>T | ENSP00000356770.3:n.1611+117G>T | |
ENST00000367797.7:c.1611+117G>T | ENSP00000356771.3:n.1611+117G>T | |
NM_000130.4:c.1611+117G>T , LRG_553t1:c.1611+117G>T | NP_000121.2:n.1611+117G>T | |
XM_017000660.2:c.1200+117G>T | XP_016856149.1:n.1200+117G>T | |
NM_000130.5:c.1611+117G>T MANE Select | NP_000121.2:n.1611+117G>T |