gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8641804 (AFR)
Genomes Max Group AF
0.8641804 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17331739A>G , CM000669.2:g.17331739A>G | GRCh38 |
| NC_000007.13:g.17371363A>G , CM000669.1:g.17371363A>G | GRCh37 |
| NC_000007.12:g.17337888A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.705+853A>G MANE Select | ENSP00000242057.4:n.705+853A>G | |
| ENST00000637807.1:c.675+853A>G | ENSP00000490530.1:n.675+853A>G | |
| ENST00000642825.1:c.660+853A>G | ENSP00000495987.1:n.660+853A>G | |
| ENST00000242057.8:c.705+853A>G | ENSP00000242057.4:n.705+853A>G | |
| ENST00000463496.1:c.705+853A>G | ENSP00000436466.1:n.705+853A>G | |
| ENST00000475440.1:n.349+853A>G | ||
| NM_001621.4:c.705+853A>G | NP_001612.1:n.705+853A>G | |
| NM_001621.5:c.705+853A>G MANE Select | NP_001612.1:n.705+853A>G |