HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55039985G>A , CM000663.2:g.55039985G>A | GRCh38 |
NC_000001.10:g.55505658G>A , CM000663.1:g.55505658G>A | GRCh37 |
NC_000001.9:g.55278246G>A | NCBI36 |
NG_009061.1:g.5439G>A , LRG_275:g.5439G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000673913.2:c.148G>A | ENSP00000501161.2:p.Asp50Asn | |
ENST00000710286.1:c.505G>A | ENSP00000518176.1:p.Asp169Asn | |
ENST00000673726.1:c.148G>A | ENSP00000501004.1:p.Asp50Asn | |
ENST00000302118.5:c.148G>A MANE Select | ENSP00000303208.5:p.Asp50Asn | |
NM_174936.3:c.148G>A , LRG_275t1:c.148G>A | NP_777596.2:p.Asp50Asn | |
NM_174936.4:c.148G>A MANE Select | NP_777596.2:p.Asp50Asn |