HGVS | Genome Assembly |
---|---|
NC_000003.12:g.186850926A>G , CM000665.2:g.186850926A>G | GRCh38 |
NC_000003.11:g.186568715A>G , CM000665.1:g.186568715A>G | GRCh37 |
NC_000003.10:g.188051409A>G | NCBI36 |
NG_021140.1:g.13253A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320741.7:c.-8-2125A>G MANE Select | ENSP00000320709.2:n.-8-2125A>G | |
ENST00000320741.6:c.-8-2125A>G | ENSP00000320709.2:n.-8-2125A>G | |
ENST00000444204.2:c.-8-2125A>G | ENSP00000389814.2:n.-8-2125A>G | |
NM_001177800.1:c.-8-2125A>G | NP_001171271.1:n.-8-2125A>G | |
NM_004797.3:c.-8-2125A>G | NP_004788.1:n.-8-2125A>G | |
XM_011513324.1:c.-124-180A>G | XP_011511626.1:n.-124-180A>G | |
NM_004797.4:c.-8-2125A>G MANE Select | NP_004788.1:n.-8-2125A>G | |
NM_001177800.2:c.-8-2125A>G | NP_001171271.1:n.-8-2125A>G |