HGVS | Genome Assembly |
---|---|
NC_000003.12:g.143531412G= , CM000665.2:g.143531412G= | GRCh38 |
NC_000003.11:g.143250254G= , CM000665.1:g.143250254G= | GRCh37 |
NC_000003.10:g.144732944G= | NCBI36 |
NG_017077.1:g.322120C= | |
NG_017077.2:g.322120C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316549.11:c.1089+20950C= MANE Select | ENSP00000320246.6:n.1089+20950C= | |
ENST00000316549.10:c.1089+20950C= | ENSP00000320246.6:n.1089+20950C= | |
NM_173653.3:c.1089+20950C= | NP_775924.1:n.1089+20950C= | |
XM_011512703.1:c.441+20950C= | XP_011511005.1:n.441+20950C= | |
XM_011512703.3:c.441+20950C= | XP_011511005.1:n.441+20950C= | |
XM_017006202.2:c.1089+20950C= | XP_016861691.1:n.1089+20950C= | |
XM_017006203.1:c.738+20950C= | XP_016861692.1:n.738+20950C= | |
NM_173653.4:c.1089+20950C= MANE Select | NP_775924.1:n.1089+20950C= |