HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063573G>T , CM000663.2:g.55063573G>T | GRCh38 |
NC_000001.10:g.55529246G>T , CM000663.1:g.55529246G>T | GRCh37 |
NC_000001.9:g.55301834G>T | NCBI36 |
NG_009061.1:g.29027G>T , LRG_275:g.29027G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*408G>T | ENSP00000501161.2:n.*408G>T | |
ENST00000710286.1:c.2425G>T | ENSP00000518176.1:p.Glu809Ter | |
ENST00000673903.1:c.1693G>T | ENSP00000501257.1:p.Glu565Ter | |
ENST00000302118.5:c.2068G>T MANE Select | ENSP00000303208.5:p.Glu690Ter | |
ENST00000490692.1:n.2614G>T | ||
NM_174936.3:c.2068G>T , LRG_275t1:c.2068G>T | NP_777596.2:p.Glu690Ter | |
NR_110451.1:n.1675G>T | ||
XM_011541193.1:c.1189G>T | XP_011539495.1:p.Glu397Ter | |
NM_174936.4:c.2068G>T MANE Select | NP_777596.2:p.Glu690Ter | |
NR_110451.2:n.1675G>T |