HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133766271C= , CM000665.2:g.133766271C= | GRCh38 |
NC_000003.11:g.133485115C= , CM000665.1:g.133485115C= | GRCh37 |
NC_000003.10:g.134967805C= | NCBI36 |
NG_013080.1:g.25139C= | |
NG_013080.2:g.109274C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000402696.9:c.1331-7C= MANE Select | ENSP00000385834.3:n.1331-7C= | |
ENST00000402696.7:c.1331-7C= | ENSP00000385834.3:n.1331-7C= | |
NM_001063.3:c.1331-7C= | NP_001054.1:n.1331-7C= | |
XM_011513100.1:c.1331-7C= | XP_011511402.1:n.1331-7C= | |
NM_001354703.1:c.1199-7C= | NP_001341632.1:n.1199-7C= | |
NM_001354704.1:c.950-7C= | NP_001341633.1:n.950-7C= | |
NM_001063.4:c.1331-7C= MANE Select | NP_001054.2:n.1331-7C= | |
NM_001354703.2:c.1199-7C= | NP_001341632.2:n.1199-7C= | |
NM_001354704.2:c.950-7C= | NP_001341633.2:n.950-7C= |