HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169529648T>C , CM000663.2:g.169529648T>C | GRCh38 |
NC_000001.10:g.169498886T>C , CM000663.1:g.169498886T>C | GRCh37 |
NC_000001.9:g.167765510T>C | NCBI36 |
NG_011806.1:g.61884A>G , LRG_553:g.61884A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.5379A>G MANE Select | ENSP00000356771.3:p.Arg1793= | |
ENST00000367796.3:c.5394A>G | ENSP00000356770.3:p.Arg1798= | |
ENST00000367797.7:c.5379A>G | ENSP00000356771.3:p.Arg1793= | |
NM_000130.4:c.5379A>G , LRG_553t1:c.5379A>G | NP_000121.2:p.Arg1793= | |
XM_017000660.2:c.4968A>G | XP_016856149.1:p.Arg1656= | |
NM_000130.5:c.5379A>G MANE Select | NP_000121.2:p.Arg1793= |