Linked Data
dbSNP Id:
rs1163467870
gnomAD v2:
2-10587905-G-C
gnomAD v3:
2-10447779-G-C
gnomAD v4:
2-10447779-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10447779G>C , CM000664.2:g.10447779G>C | GRCh38 |
| NC_000002.11:g.10587905G>C , CM000664.1:g.10587905G>C | GRCh37 |
| NC_000002.10:g.10505356G>C | NCBI36 |
| NG_012105.1:g.5549C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443218.2:c.-279C>G | ENSP00000390691.2:n.-279C>G | |
| ENST00000446285.6:c.-128+342C>G | ENSP00000514632.1:n.-128+342C>G | |
| ENST00000699835.1:c.-723C>G | ENSP00000514633.1:n.-723C>G | |
| ENST00000699836.1:c.-18+342C>G | ENSP00000514634.1:n.-18+342C>G | |
| ENST00000234111.9:c.-128+342C>G MANE Select | ENSP00000234111.4:n.-128+342C>G | |
| ENST00000234111.8:c.-128+342C>G | ENSP00000234111.4:n.-128+342C>G | |
| ENST00000405333.5:c.-433C>G | ENSP00000385333.1:n.-433C>G | |
| ENST00000443218.1:c.-279C>G | ENSP00000390691.1:n.-279C>G | |
| ENST00000446285.5:n.189+342C>G | ||
| NM_001287188.1:c.-415+342C>G | NP_001274117.1:n.-415+342C>G | |
| NM_001287189.1:c.-433C>G | NP_001274118.1:n.-433C>G | |
| NM_001287190.1:c.-279C>G | NP_001274119.1:n.-279C>G | |
| NM_002539.2:c.-128+342C>G | NP_002530.1:n.-128+342C>G | |
| NM_002539.3:c.-128+342C>G MANE Select | NP_002530.1:n.-128+342C>G | |
| NM_001287188.2:c.-415+342C>G | NP_001274117.1:n.-415+342C>G | |
| NM_001287189.2:c.-433C>G | NP_001274118.1:n.-433C>G | |
| NM_001287190.2:c.-279C>G | NP_001274119.1:n.-279C>G |