HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55044021A>T , CM000663.2:g.55044021A>T | GRCh38 |
NC_000001.10:g.55509694A>T , CM000663.1:g.55509694A>T | GRCh37 |
NC_000001.9:g.55282282A>T | NCBI36 |
NG_009061.1:g.9475A>T , LRG_275:g.9475A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.386A>T | ENSP00000501161.2:p.Asp129Val | |
ENST00000710286.1:c.743A>T | ENSP00000518176.1:p.Asp248Val | |
ENST00000673662.1:n.56A>T | ||
ENST00000673726.1:c.386A>T | ENSP00000501004.1:p.Asp129Val | |
ENST00000673903.1:c.11A>T | ENSP00000501257.1:p.Asp4Val | |
ENST00000302118.5:c.386A>T MANE Select | ENSP00000303208.5:p.Asp129Val | |
NM_174936.3:c.386A>T , LRG_275t1:c.386A>T | NP_777596.2:p.Asp129Val | |
NR_110451.1:n.182+3618A>T | ||
NM_174936.4:c.386A>T MANE Select | NP_777596.2:p.Asp129Val | |
NR_110451.2:n.182+3618A>T |