HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169529751T>C , CM000663.2:g.169529751T>C | GRCh38 |
NC_000001.10:g.169498989T>C , CM000663.1:g.169498989T>C | GRCh37 |
NC_000001.9:g.167765613T>C | NCBI36 |
NG_011806.1:g.61781A>G , LRG_553:g.61781A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.5276A>G MANE Select | ENSP00000356771.3:p.Asp1759Gly | |
ENST00000367796.3:c.5291A>G | ENSP00000356770.3:p.Asp1764Gly | |
ENST00000367797.7:c.5276A>G | ENSP00000356771.3:p.Asp1759Gly | |
NM_000130.4:c.5276A>G , LRG_553t1:c.5276A>G | NP_000121.2:p.Asp1759Gly | |
XM_017000660.2:c.4865A>G | XP_016856149.1:p.Asp1622Gly | |
NM_000130.5:c.5276A>G MANE Select | NP_000121.2:p.Asp1759Gly |