HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169549629C= , CM000663.2:g.169549629C= | GRCh38 |
NC_000001.10:g.169518867C= , CM000663.1:g.169518867C= | GRCh37 |
NC_000001.9:g.167785491C= | NCBI36 |
NG_011806.1:g.41903G= , LRG_553:g.41903G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.1611+172G= MANE Select | ENSP00000356771.3:n.1611+172G= | |
ENST00000367796.3:c.1611+172G= | ENSP00000356770.3:n.1611+172G= | |
ENST00000367797.7:c.1611+172G= | ENSP00000356771.3:n.1611+172G= | |
NM_000130.4:c.1611+172G= , LRG_553t1:c.1611+172G= | NP_000121.2:n.1611+172G= | |
XM_017000660.2:c.1200+172G= | XP_016856149.1:n.1200+172G= | |
NM_000130.5:c.1611+172G= MANE Select | NP_000121.2:n.1611+172G= |