HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202467536G>A , CM000664.2:g.202467536G>A | GRCh38 |
NC_000002.11:g.203332259G>A , CM000664.1:g.203332259G>A | GRCh37 |
NC_000002.10:g.203040504G>A | NCBI36 |
NG_009363.1:g.96210G>A , LRG_712:g.96210G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.265G>A MANE Select | ENSP00000363708.4:p.Gly89Arg | |
ENST00000638587.1:c.196G>A | ENSP00000491062.1:p.Gly66Arg | |
ENST00000374574.2:c.265G>A | ENSP00000363702.2:p.Gly89Arg | |
ENST00000374580.8:c.265G>A | ENSP00000363708.4:p.Gly89Arg | |
ENST00000479069.1:n.172G>A | ||
NM_001204.6:c.265G>A , LRG_712t1:c.265G>A | NP_001195.2:p.Gly89Arg | |
XM_011511687.1:c.265G>A | XP_011509989.1:p.Gly89Arg | |
XM_011511688.1:c.265G>A | XP_011509990.1:p.Gly89Arg | |
NM_001204.7:c.265G>A MANE Select | NP_001195.2:p.Gly89Arg |