gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29215659 (EAS)
Genomes Max Group AF
0.29215659 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.14470835A>G , CM000671.2:g.14470835A>G | GRCh38 |
| NC_000009.11:g.14470833A>G , CM000671.1:g.14470833A>G | GRCh37 |
| NC_000009.10:g.14460833A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001369458.1:c.96+61112T>C | NP_001356387.1:n.96+61112T>C | |
| NM_001369459.1:c.96+61112T>C | NP_001356388.1:n.96+61112T>C | |
| NM_001369462.1:c.96+61112T>C | NP_001356391.1:n.96+61112T>C | |
| NM_001369468.1:c.96+61112T>C | NP_001356397.1:n.96+61112T>C |