HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52033499C>A , CM000666.2:g.52033499C>A | GRCh38 |
NC_000004.11:g.52899665C>A , CM000666.1:g.52899665C>A | GRCh37 |
NC_000004.10:g.52594422C>A | NCBI36 |
NG_008891.1:g.9821G>T , LRG_204:g.9821G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.175G>T MANE Select | ENSP00000370839.6:p.Gly59Ter | |
ENST00000381431.9:c.175G>T | ENSP00000370839.5:p.Gly59Ter | |
ENST00000506357.5:c.161G>T | ||
ENST00000514133.1:c.142G>T | ENSP00000425818.1:p.Gly48Ter | |
NM_000232.4:c.175G>T , LRG_204t1:c.175G>T | NP_000223.1:p.Gly59Ter | |
XM_006714049.2:c.-233G>T | XP_006714112.1:n.-233G>T | |
XM_011534403.1:c.34-3636G>T | XP_011532705.1:n.34-3636G>T | |
XM_011534404.1:c.-210G>T | XP_011532706.1:n.-210G>T | |
NM_000232.5:c.175G>T MANE Select | NP_000223.1:p.Gly59Ter |