HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169529636T>G , CM000663.2:g.169529636T>G | GRCh38 |
NC_000001.10:g.169498874T>G , CM000663.1:g.169498874T>G | GRCh37 |
NC_000001.9:g.167765498T>G | NCBI36 |
NG_011806.1:g.61896A>C , LRG_553:g.61896A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.5391A>C MANE Select | ENSP00000356771.3:p.Ser1797= | |
ENST00000367796.3:c.5406A>C | ENSP00000356770.3:p.Ser1802= | |
ENST00000367797.7:c.5391A>C | ENSP00000356771.3:p.Ser1797= | |
NM_000130.4:c.5391A>C , LRG_553t1:c.5391A>C | NP_000121.2:p.Ser1797= | |
XM_017000660.2:c.4980A>C | XP_016856149.1:p.Ser1660= | |
NM_000130.5:c.5391A>C MANE Select | NP_000121.2:p.Ser1797= |