HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063535T>C , CM000663.2:g.55063535T>C | GRCh38 |
NC_000001.10:g.55529208T>C , CM000663.1:g.55529208T>C | GRCh37 |
NC_000001.9:g.55301796T>C | NCBI36 |
NG_009061.1:g.28989T>C , LRG_275:g.28989T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*370T>C | ENSP00000501161.2:n.*370T>C | |
ENST00000710286.1:c.2387T>C | ENSP00000518176.1:p.Ile796Thr | |
ENST00000673903.1:c.1655T>C | ENSP00000501257.1:p.Ile552Thr | |
ENST00000302118.5:c.2030T>C MANE Select | ENSP00000303208.5:p.Ile677Thr | |
ENST00000490692.1:n.2576T>C | ||
NM_174936.3:c.2030T>C , LRG_275t1:c.2030T>C | NP_777596.2:p.Ile677Thr | |
NR_110451.1:n.1637T>C | ||
XM_011541193.1:c.1151T>C | XP_011539495.1:p.Ile384Thr | |
NM_174936.4:c.2030T>C MANE Select | NP_777596.2:p.Ile677Thr | |
NR_110451.2:n.1637T>C |