HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74922842G= , CM000679.2:g.74922842G= | GRCh38 |
NC_000017.10:g.72918937G= , CM000679.1:g.72918937G= | GRCh37 |
NC_000017.9:g.70430532G= | NCBI36 |
NG_007882.1:g.5415C= | |
NG_033062.1:g.3568G= | |
NG_007882.2:g.5422C= | |
NG_033062.2:g.3568G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614341.5:c.164+68C= MANE Select | ENSP00000480279.1:n.164+68C= | |
ENST00000579243.1:c.164+68C= | ENSP00000462568.1:n.164+68C= | |
ENST00000614341.4:c.164+68C= | ENSP00000480279.1:n.164+68C= | |
NM_001282489.2:c.-93+68C= | NP_001269418.1:n.-93+68C= | |
NM_173477.4:c.164+68C= | NP_775748.2:n.164+68C= | |
XM_011524296.1:c.-412C= | XP_011522598.1:n.-412C= | |
XM_011524296.2:c.-412C= | XP_011522598.1:n.-412C= | |
NM_173477.5:c.164+68C= MANE Select | NP_775748.2:n.164+68C= | |
NM_001282489.3:c.-93+68C= | NP_001269418.1:n.-93+68C= |