HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169552605A>G , CM000663.2:g.169552605A>G | GRCh38 |
NC_000001.10:g.169521843A>G , CM000663.1:g.169521843A>G | GRCh37 |
NC_000001.9:g.167788467A>G | NCBI36 |
NG_011806.1:g.38927T>C , LRG_553:g.38927T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.1248T>C MANE Select | ENSP00000356771.3:p.Asp416= | |
ENST00000367796.3:c.1248T>C | ENSP00000356770.3:p.Asp416= | |
ENST00000367797.7:c.1248T>C | ENSP00000356771.3:p.Asp416= | |
NM_000130.4:c.1248T>C , LRG_553t1:c.1248T>C | NP_000121.2:p.Asp416= | |
XM_017000660.2:c.837T>C | XP_016856149.1:p.Asp279= | |
NM_000130.5:c.1248T>C MANE Select | NP_000121.2:p.Asp416= |