HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74922866G= , CM000679.2:g.74922866G= | GRCh38 |
NC_000017.10:g.72918961G= , CM000679.1:g.72918961G= | GRCh37 |
NC_000017.9:g.70430556G= | NCBI36 |
NG_007882.1:g.5391C= | |
NG_033062.1:g.3592G= | |
NG_007882.2:g.5398C= | |
NG_033062.2:g.3592G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.164+44C= MANE Select | ENSP00000480279.1:n.164+44C= | |
ENST00000579243.1:c.164+44C= | ENSP00000462568.1:n.164+44C= | |
ENST00000614341.4:c.164+44C= | ENSP00000480279.1:n.164+44C= | |
NM_001282489.2:c.-93+44C= | NP_001269418.1:n.-93+44C= | |
NM_173477.4:c.164+44C= | NP_775748.2:n.164+44C= | |
XM_011524296.1:c.-436C= | XP_011522598.1:n.-436C= | |
XM_011524296.2:c.-436C= | XP_011522598.1:n.-436C= | |
NM_173477.5:c.164+44C= MANE Select | NP_775748.2:n.164+44C= | |
NM_001282489.3:c.-93+44C= | NP_001269418.1:n.-93+44C= |