HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063534A>C , CM000663.2:g.55063534A>C | GRCh38 |
NC_000001.10:g.55529207A>C , CM000663.1:g.55529207A>C | GRCh37 |
NC_000001.9:g.55301795A>C | NCBI36 |
NG_009061.1:g.28988A>C , LRG_275:g.28988A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*369A>C | ENSP00000501161.2:n.*369A>C | |
ENST00000710286.1:c.2386A>C | ENSP00000518176.1:p.Ile796Leu | |
ENST00000673903.1:c.1654A>C | ENSP00000501257.1:p.Ile552Leu | |
ENST00000302118.5:c.2029A>C MANE Select | ENSP00000303208.5:p.Ile677Leu | |
ENST00000490692.1:n.2575A>C | ||
NM_174936.3:c.2029A>C , LRG_275t1:c.2029A>C | NP_777596.2:p.Ile677Leu | |
NR_110451.1:n.1636A>C | ||
XM_011541193.1:c.1150A>C | XP_011539495.1:p.Ile384Leu | |
NM_174936.4:c.2029A>C MANE Select | NP_777596.2:p.Ile677Leu | |
NR_110451.2:n.1636A>C |