Linked Data
dbSNP Id:
rs10761581
ExAC:
10:51568378 T / G
gnomAD v2:
10-51568378-T-G
gnomAD v3:
10-46027444-A-C
gnomAD v4:
10-46027444-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.46027444A>C , CM000672.2:g.46027444A>C | GRCh38 |
| NC_000010.10:g.51568378T>G , CM000672.1:g.51568378T>G | GRCh37 |
| NC_000010.9:g.51238384T>G | NCBI36 |
| NG_023372.1:g.8271T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000581486.6:c.-15+3082T>G MANE Select | ENSP00000462943.1:n.-15+3082T>G | |
| ENST00000578454.5:c.22T>G | ENSP00000463027.1:p.Phe8Val | |
| ENST00000579039.2:c.22T>G | ENSP00000463455.1:p.Phe8Val | |
| ENST00000580070.5:c.-128+3082T>G | ENSP00000462352.1:n.-128+3082T>G | |
| ENST00000581486.5:c.-15+3082T>G | ENSP00000462943.1:n.-15+3082T>G | |
| ENST00000585056.5:c.-71+3082T>G | ENSP00000463022.1:n.-71+3082T>G | |
| NM_001145260.1:c.22T>G | NP_001138732.1:p.Phe8Val | |
| NM_001145261.1:c.22T>G | NP_001138733.1:p.Phe8Val | |
| NM_001145263.1:c.-15+3082T>G | NP_001138735.1:n.-15+3082T>G | |
| NM_001145260.2:c.22T>G | NP_001138732.1:p.Phe8Val | |
| NM_001145261.2:c.22T>G | NP_001138733.1:p.Phe8Val | |
| NM_001145263.2:c.-15+3082T>G MANE Select | NP_001138735.1:n.-15+3082T>G |