HGVS | Genome Assembly |
---|---|
NC_000003.12:g.120633175G>T , CM000665.2:g.120633175G>T | GRCh38 |
NC_000003.11:g.120352022G>T , CM000665.1:g.120352022G>T | GRCh37 |
NC_000003.10:g.121834712G>T | NCBI36 |
NG_011957.1:g.54307C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000283871.10:c.1160C>A MANE Select | ENSP00000283871.5:p.Ala387Glu | |
ENST00000283871.9:c.1160C>A | ENSP00000283871.5:p.Ala387Glu | |
ENST00000470321.1:n.500C>A | ||
ENST00000492108.5:c.439C>A | ENSP00000419838.1:n.439C>A | |
NM_000187.3:c.1160C>A | NP_000178.2:p.Ala387Glu | |
XM_005247412.1:c.935C>A | XP_005247469.1:p.Ala312Glu | |
XM_005247412.2:c.935C>A | XP_005247469.1:p.Ala312Glu | |
XM_017006277.2:c.737C>A | XP_016861766.1:p.Ala246Glu | |
NM_000187.4:c.1160C>A MANE Select | NP_000178.2:p.Ala387Glu |