HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202552774G>A , CM000664.2:g.202552774G>A | GRCh38 |
NC_000002.11:g.203417497G>A , CM000664.1:g.203417497G>A | GRCh37 |
NC_000002.10:g.203125742G>A | NCBI36 |
NG_009363.1:g.181448G>A , LRG_712:g.181448G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.1472G>A MANE Select | ENSP00000363708.4:p.Arg491Gln | |
ENST00000638587.1:c.1403G>A | ENSP00000491062.1:p.Arg468Gln | |
ENST00000374574.2:c.1472G>A | ENSP00000363702.2:p.Arg491Gln | |
ENST00000374580.8:c.1472G>A | ENSP00000363708.4:p.Arg491Gln | |
NM_001204.6:c.1472G>A , LRG_712t1:c.1472G>A | NP_001195.2:p.Arg491Gln | |
XM_011511687.1:c.1472G>A | XP_011509989.1:p.Arg491Gln | |
XM_011511688.1:c.1472G>A | XP_011509990.1:p.Arg491Gln | |
NM_001204.7:c.1472G>A MANE Select | NP_001195.2:p.Arg491Gln |