HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52033529C>G , CM000666.2:g.52033529C>G | GRCh38 |
NC_000004.11:g.52899695C>G , CM000666.1:g.52899695C>G | GRCh37 |
NC_000004.10:g.52594452C>G | NCBI36 |
NG_008891.1:g.9791G>C , LRG_204:g.9791G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.145G>C MANE Select | ENSP00000370839.6:p.Glu49Gln | |
ENST00000381431.9:c.145G>C | ENSP00000370839.5:p.Glu49Gln | |
ENST00000506357.5:c.131G>C | ||
ENST00000514133.1:c.112G>C | ENSP00000425818.1:p.Glu38Gln | |
NM_000232.4:c.145G>C , LRG_204t1:c.145G>C | NP_000223.1:p.Glu49Gln | |
XM_011534403.1:c.34-3666G>C | XP_011532705.1:n.34-3666G>C | |
NM_000232.5:c.145G>C MANE Select | NP_000223.1:p.Glu49Gln |