HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52033516T>C , CM000666.2:g.52033516T>C | GRCh38 |
NC_000004.11:g.52899682T>C , CM000666.1:g.52899682T>C | GRCh37 |
NC_000004.10:g.52594439T>C | NCBI36 |
NG_008891.1:g.9804A>G , LRG_204:g.9804A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.158A>G MANE Select | ENSP00000370839.6:p.His53Arg | |
ENST00000381431.9:c.158A>G | ENSP00000370839.5:p.His53Arg | |
ENST00000506357.5:c.144A>G | ||
ENST00000514133.1:c.125A>G | ENSP00000425818.1:p.His42Arg | |
NM_000232.4:c.158A>G , LRG_204t1:c.158A>G | NP_000223.1:p.His53Arg | |
XM_006714049.2:c.-250A>G | XP_006714112.1:n.-250A>G | |
XM_011534403.1:c.34-3653A>G | XP_011532705.1:n.34-3653A>G | |
XM_011534404.1:c.-227A>G | XP_011532706.1:n.-227A>G | |
NM_000232.5:c.158A>G MANE Select | NP_000223.1:p.His53Arg |