HGVS | Genome Assembly |
---|---|
NC_000003.12:g.186849088G>T , CM000665.2:g.186849088G>T | GRCh38 |
NC_000003.11:g.186566877G>T , CM000665.1:g.186566877G>T | GRCh37 |
NC_000003.10:g.188049571G>T | NCBI36 |
NG_021140.1:g.11415G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320741.7:c.-8-3963G>T MANE Select | ENSP00000320709.2:n.-8-3963G>T | |
ENST00000320741.6:c.-8-3963G>T | ENSP00000320709.2:n.-8-3963G>T | |
ENST00000444204.2:c.-9+3481G>T | ENSP00000389814.2:n.-9+3481G>T | |
NM_001177800.1:c.-9+3481G>T | NP_001171271.1:n.-9+3481G>T | |
NM_004797.3:c.-8-3963G>T | NP_004788.1:n.-8-3963G>T | |
XM_011513324.1:c.-124-2018G>T | XP_011511626.1:n.-124-2018G>T | |
NM_004797.4:c.-8-3963G>T MANE Select | NP_004788.1:n.-8-3963G>T | |
NM_001177800.2:c.-9+3481G>T | NP_001171271.1:n.-9+3481G>T |