gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04984889 (NFE)
Genomes Max Group AF
0.04984889 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47862790G>T , CM000675.2:g.47862790G>T | GRCh38 |
| NC_000013.10:g.48436925G>T , CM000675.1:g.48436925G>T | GRCh37 |
| NC_000013.9:g.47334926G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643584.1:c.*214+42539C>A | ENSP00000494987.1:n.*214+42539C>A | |
| ENST00000647008.1:n.1237+44228C>A |