HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169541903T>G , CM000663.2:g.169541903T>G | GRCh38 |
NC_000001.10:g.169511141T>G , CM000663.1:g.169511141T>G | GRCh37 |
NC_000001.9:g.167777765T>G | NCBI36 |
NG_011806.1:g.49629A>C , LRG_553:g.49629A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.3187A>C MANE Select | ENSP00000356771.3:p.Arg1063= | |
ENST00000367796.3:c.3202A>C | ENSP00000356770.3:p.Arg1068= | |
ENST00000367797.7:c.3187A>C | ENSP00000356771.3:p.Arg1063= | |
NM_000130.4:c.3187A>C , LRG_553t1:c.3187A>C | NP_000121.2:p.Arg1063= | |
XM_017000660.2:c.2776A>C | XP_016856149.1:p.Arg926= | |
NM_000130.5:c.3187A>C MANE Select | NP_000121.2:p.Arg1063= |