HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169552706A>C , CM000663.2:g.169552706A>C | GRCh38 |
NC_000001.10:g.169521944A>C , CM000663.1:g.169521944A>C | GRCh37 |
NC_000001.9:g.167788568A>C | NCBI36 |
NG_011806.1:g.38826T>G , LRG_553:g.38826T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.1147T>G MANE Select | ENSP00000356771.3:p.Phe383Val | |
ENST00000367796.3:c.1147T>G | ENSP00000356770.3:p.Phe383Val | |
ENST00000367797.7:c.1147T>G | ENSP00000356771.3:p.Phe383Val | |
NM_000130.4:c.1147T>G , LRG_553t1:c.1147T>G | NP_000121.2:p.Phe383Val | |
XM_017000660.2:c.736T>G | XP_016856149.1:p.Phe246Val | |
NM_000130.5:c.1147T>G MANE Select | NP_000121.2:p.Phe383Val |