gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10241387 (NFE)
Genomes Max Group AF
0.10241387 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88550016T>C , CM000674.2:g.88550016T>C | GRCh38 |
| NC_000012.11:g.88943793T>C , CM000674.1:g.88943793T>C | GRCh37 |
| NC_000012.10:g.87467924T>C | NCBI36 |
| NG_012098.1:g.35446A>G | |
| NG_012098.2:g.35446A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347404.10:c.16-4151A>G | ENSP00000054216.5:n.16-4151A>G | |
| ENST00000644744.1:c.16-4151A>G MANE Select | ENSP00000495951.1:n.16-4151A>G | |
| ENST00000646633.1:c.*17-4151A>G | ENSP00000494139.1:n.*17-4151A>G | |
| ENST00000228280.9:c.16-4151A>G | ENSP00000228280.5:n.16-4151A>G | |
| ENST00000347404.9:c.16-4151A>G | ENSP00000054216.5:n.16-4151A>G | |
| ENST00000357116.4:c.-48+30248A>G | ENSP00000474021.1:n.-48+30248A>G | |
| ENST00000552044.1:c.-138-4151A>G | ENSP00000475042.1:n.-138-4151A>G | |
| NM_000899.4:c.16-4151A>G | NP_000890.1:n.16-4151A>G | |
| NM_003994.5:c.16-4151A>G | NP_003985.2:n.16-4151A>G | |
| NM_000899.5:c.16-4151A>G MANE Select | NP_000890.1:n.16-4151A>G | |
| NM_003994.6:c.16-4151A>G | NP_003985.2:n.16-4151A>G |