HGVS | Genome Assembly |
---|---|
NC_000016.10:g.68645383G>A , CM000678.2:g.68645383G>A | GRCh38 |
NC_000016.9:g.68679286G>A , CM000678.1:g.68679286G>A | GRCh37 |
NC_000016.8:g.67236787G>A | NCBI36 |
NG_009096.1:g.6136G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264012.9:c.4G>A MANE Select | ENSP00000264012.4:p.Gly2Arg | |
ENST00000264012.8:c.4G>A | ENSP00000264012.4:p.Gly2Arg | |
ENST00000429102.6:c.4G>A | ENSP00000398485.2:p.Gly2Arg | |
ENST00000542274.5:c.4G>A | ENSP00000464021.1:p.Gly2Arg | |
NM_001793.4:c.4G>A | NP_001784.2:p.Gly2Arg | |
XM_011522800.1:c.4G>A | XP_011521102.1:p.Gly2Arg | |
NM_001317195.1:c.4G>A | NP_001304124.1:p.Gly2Arg | |
NM_001317196.1:c.-47G>A | NP_001304125.1:n.-47G>A | |
NM_001793.5:c.4G>A | NP_001784.2:p.Gly2Arg | |
XM_011522800.3:c.4G>A | XP_011521102.1:p.Gly2Arg | |
NM_001793.6:c.4G>A MANE Select | NP_001784.2:p.Gly2Arg | |
NM_001317195.2:c.4G>A | NP_001304124.1:p.Gly2Arg | |
NM_001317196.2:c.-47G>A | NP_001304125.1:n.-47G>A | |
NM_001317195.3:c.4G>A | NP_001304124.1:p.Gly2Arg |