HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52033490C>A , CM000666.2:g.52033490C>A | GRCh38 |
NC_000004.11:g.52899656C>A , CM000666.1:g.52899656C>A | GRCh37 |
NC_000004.10:g.52594413C>A | NCBI36 |
NG_008891.1:g.9830G>T , LRG_204:g.9830G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.184G>T MANE Select | ENSP00000370839.6:p.Gly62Cys | |
ENST00000381431.9:c.184G>T | ENSP00000370839.5:p.Gly62Cys | |
ENST00000506357.5:c.170G>T | ||
ENST00000514133.1:c.151G>T | ENSP00000425818.1:p.Gly51Cys | |
NM_000232.4:c.184G>T , LRG_204t1:c.184G>T | NP_000223.1:p.Gly62Cys | |
XM_006714049.2:c.-224G>T | XP_006714112.1:n.-224G>T | |
XM_011534403.1:c.34-3627G>T | XP_011532705.1:n.34-3627G>T | |
XM_011534404.1:c.-201G>T | XP_011532706.1:n.-201G>T | |
NM_000232.5:c.184G>T MANE Select | NP_000223.1:p.Gly62Cys |