HGVS | Genome Assembly |
---|---|
NC_000023.11:g.70030496G>A , CM000685.2:g.70030496G>A | GRCh38 |
NC_000023.10:g.69250346G>A , CM000685.1:g.69250346G>A | GRCh37 |
NC_000023.9:g.69167071G>A | NCBI36 |
NG_009809.1:g.419436G>A | |
NG_009809.2:g.419430G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374552.9:c.769G>A MANE Select | ENSP00000363680.4:p.Gly257Arg | |
ENST00000374552.8:c.769G>A | ENSP00000363680.4:p.Gly257Arg | |
ENST00000374553.6:c.769G>A | ENSP00000363681.2:p.Gly257Arg | |
ENST00000503592.5:c.373G>A | ENSP00000423037.1:p.Gly125Arg | |
ENST00000524573.5:c.769G>A | ENSP00000432585.1:p.Gly257Arg | |
ENST00000616899.1:c.373G>A | ENSP00000481963.1:p.Gly125Arg | |
NM_001005609.1:c.769G>A | NP_001005609.1:p.Gly257Arg | |
NM_001005612.2:c.769G>A | NP_001005612.2:p.Gly257Arg | |
NM_001399.4:c.769G>A | NP_001390.1:p.Gly257Arg | |
XM_006724630.2:c.769G>A | XP_006724693.1:p.Gly257Arg | |
XM_011530885.1:c.769G>A | XP_011529187.1:p.Gly257Arg | |
XM_011530885.2:c.769G>A | XP_011529187.1:p.Gly257Arg | |
XM_017029336.1:c.769G>A | XP_016884825.1:p.Gly257Arg | |
NM_001399.5:c.769G>A MANE Select | NP_001390.1:p.Gly257Arg | |
NM_001005609.2:c.769G>A | NP_001005609.1:p.Gly257Arg | |
NM_001005612.3:c.769G>A | NP_001005612.2:p.Gly257Arg |