HGVS | Genome Assembly |
---|---|
NC_000002.12:g.10448012C>T , CM000664.2:g.10448012C>T | GRCh38 |
NC_000002.11:g.10588138C>T , CM000664.1:g.10588138C>T | GRCh37 |
NC_000002.10:g.10505589C>T | NCBI36 |
NG_012105.1:g.5316G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000443218.2:c.-512G>A | ENSP00000390691.2:n.-512G>A | |
ENST00000446285.6:c.-128+109G>A | ENSP00000514632.1:n.-128+109G>A | |
ENST00000699836.1:c.-18+109G>A | ENSP00000514634.1:n.-18+109G>A | |
ENST00000234111.9:c.-128+109G>A MANE Select | ENSP00000234111.4:n.-128+109G>A | |
ENST00000234111.8:c.-128+109G>A | ENSP00000234111.4:n.-128+109G>A | |
ENST00000446285.5:n.189+109G>A | ||
NM_001287188.1:c.-415+109G>A | NP_001274117.1:n.-415+109G>A | |
NM_002539.2:c.-128+109G>A | NP_002530.1:n.-128+109G>A | |
NM_002539.3:c.-128+109G>A MANE Select | NP_002530.1:n.-128+109G>A | |
NM_001287188.2:c.-415+109G>A | NP_001274117.1:n.-415+109G>A | |
NM_001287189.2:c.-666G>A | NP_001274118.1:n.-666G>A | |
NM_001287190.2:c.-512G>A | NP_001274119.1:n.-512G>A |