HGVS | Genome Assembly |
---|---|
NC_000010.11:g.69180377G>A , CM000672.2:g.69180377G>A | GRCh38 |
NC_000010.10:g.70940133G>A , CM000672.1:g.70940133G>A | GRCh37 |
NC_000010.9:g.70610139G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359655.9:c.86G>A MANE Select | ENSP00000352678.4:p.Arg29His | |
ENST00000359655.8:c.86G>A | ENSP00000352678.4:p.Arg29His | |
ENST00000422378.1:c.86G>A | ENSP00000409072.1:p.Arg29His | |
ENST00000471069.5:n.128G>A | ||
ENST00000483572.5:n.97G>A | ||
NM_001301683.1:c.-443G>A | NP_001288612.1:n.-443G>A | |
NM_003171.4:c.86G>A | NP_003162.2:p.Arg29His | |
XM_011540106.1:c.-356G>A | XP_011538408.1:n.-356G>A | |
XM_011540107.1:c.86G>A | XP_011538409.1:p.Arg29His | |
NM_001323584.1:c.-356G>A | NP_001310513.1:n.-356G>A | |
NM_001323585.1:c.-486G>A | NP_001310514.1:n.-486G>A | |
NM_001323586.1:c.-351G>A | NP_001310515.1:n.-351G>A | |
NM_001323587.1:c.-824G>A | NP_001310516.1:n.-824G>A | |
NM_001323588.1:c.-872G>A | NP_001310517.1:n.-872G>A | |
NR_136626.1:n.174G>A | ||
NR_136627.1:n.174G>A | ||
NM_003171.5:c.86G>A MANE Select | NP_003162.2:p.Arg29His | |
NM_001301683.2:c.-443G>A | NP_001288612.1:n.-443G>A | |
NM_001323584.2:c.-356G>A | NP_001310513.1:n.-356G>A | |
NM_001323585.2:c.-486G>A | NP_001310514.1:n.-486G>A | |
NM_001323586.2:c.-351G>A | NP_001310515.1:n.-351G>A | |
NM_001323587.2:c.-824G>A | NP_001310516.1:n.-824G>A | |
NM_001323588.2:c.-872G>A | NP_001310517.1:n.-872G>A | |
NR_136626.2:n.144G>A | ||
NR_136627.2:n.144G>A |