HGVS | Genome Assembly |
---|---|
NC_000003.12:g.186843557G>A , CM000665.2:g.186843557G>A | GRCh38 |
NC_000003.11:g.186561346G>A , CM000665.1:g.186561346G>A | GRCh37 |
NC_000003.10:g.188044040G>A | NCBI36 |
NG_021140.1:g.5884G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320741.7:c.-9+808G>A MANE Select | ENSP00000320709.2:n.-9+808G>A | |
ENST00000320741.6:c.-9+808G>A | ENSP00000320709.2:n.-9+808G>A | |
ENST00000444204.2:c.-60+808G>A | ENSP00000389814.2:n.-60+808G>A | |
NM_001177800.1:c.-60+808G>A | NP_001171271.1:n.-60+808G>A | |
NM_004797.3:c.-9+808G>A | NP_004788.1:n.-9+808G>A | |
XM_011513324.1:c.-125+808G>A | XP_011511626.1:n.-125+808G>A | |
NM_004797.4:c.-9+808G>A MANE Select | NP_004788.1:n.-9+808G>A | |
NM_001177800.2:c.-60+808G>A | NP_001171271.1:n.-60+808G>A |