gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57030233 (NFE)
Genomes Max Group AF
0.57032109 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34855901T>C , CM000677.2:g.34855901T>C | GRCh38 |
| NC_000015.9:g.35148102T>C , CM000677.1:g.35148102T>C | GRCh37 |
| NC_000015.8:g.32935394T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000156471.10:c.*891A>G MANE Select | ENSP00000156471.5:n.*891A>G | |
| ENST00000156471.9:c.*891A>G | ENSP00000156471.5:n.*891A>G | |
| NM_014691.3:c.*891A>G MANE Select | NP_055506.1:n.*891A>G |