HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169552694T>G , CM000663.2:g.169552694T>G | GRCh38 |
NC_000001.10:g.169521932T>G , CM000663.1:g.169521932T>G | GRCh37 |
NC_000001.9:g.167788556T>G | NCBI36 |
NG_011806.1:g.38838A>C , LRG_553:g.38838A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.1159A>C MANE Select | ENSP00000356771.3:p.Ile387Leu | |
ENST00000367796.3:c.1159A>C | ENSP00000356770.3:p.Ile387Leu | |
ENST00000367797.7:c.1159A>C | ENSP00000356771.3:p.Ile387Leu | |
NM_000130.4:c.1159A>C , LRG_553t1:c.1159A>C | NP_000121.2:p.Ile387Leu | |
XM_017000660.2:c.748A>C | XP_016856149.1:p.Ile250Leu | |
NM_000130.5:c.1159A>C MANE Select | NP_000121.2:p.Ile387Leu |