Linked Data
dbSNP Id:
rs1231513707
gnomAD v2:
2-10587980-G-A
gnomAD v3:
2-10447854-G-A
gnomAD v4:
2-10447854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10447854G>A , CM000664.2:g.10447854G>A | GRCh38 |
| NC_000002.11:g.10587980G>A , CM000664.1:g.10587980G>A | GRCh37 |
| NC_000002.10:g.10505431G>A | NCBI36 |
| NG_012105.1:g.5474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443218.2:c.-354C>T | ENSP00000390691.2:n.-354C>T | |
| ENST00000446285.6:c.-128+267C>T | ENSP00000514632.1:n.-128+267C>T | |
| ENST00000699835.1:c.-798C>T | ENSP00000514633.1:n.-798C>T | |
| ENST00000699836.1:c.-18+267C>T | ENSP00000514634.1:n.-18+267C>T | |
| ENST00000234111.9:c.-128+267C>T MANE Select | ENSP00000234111.4:n.-128+267C>T | |
| ENST00000234111.8:c.-128+267C>T | ENSP00000234111.4:n.-128+267C>T | |
| ENST00000446285.5:n.189+267C>T | ||
| NM_001287188.1:c.-415+267C>T | NP_001274117.1:n.-415+267C>T | |
| NM_002539.2:c.-128+267C>T | NP_002530.1:n.-128+267C>T | |
| NM_002539.3:c.-128+267C>T MANE Select | NP_002530.1:n.-128+267C>T | |
| NM_001287188.2:c.-415+267C>T | NP_001274117.1:n.-415+267C>T | |
| NM_001287189.2:c.-508C>T | NP_001274118.1:n.-508C>T | |
| NM_001287190.2:c.-354C>T | NP_001274119.1:n.-354C>T |