HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280403G>A , CM000679.2:g.58280403G>A | GRCh38 |
NC_000017.10:g.56357764G>A , CM000679.1:g.56357764G>A | GRCh37 |
NC_000017.9:g.53712763G>A | NCBI36 |
NG_009629.1:g.5533C>T , LRG_84:g.5533C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225275.4:c.211C>T MANE Select | ENSP00000225275.3:p.Gln71Ter | |
ENST00000225275.3:c.211C>T | ENSP00000225275.3:p.Gln71Ter | |
ENST00000580005.1:n.140C>T | ||
NM_000250.1:c.211C>T , LRG_84t1:c.211C>T | NP_000241.1:p.Gln71Ter | |
XM_011524821.1:c.397C>T | XP_011523123.1:p.Gln133Ter | |
XM_011524822.1:c.-38+202C>T | XP_011523124.1:n.-38+202C>T | |
XM_011524823.1:c.397C>T | XP_011523125.1:p.Gln133Ter | |
NM_000250.2:c.211C>T MANE Select | NP_000241.1:p.Gln71Ter |