gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28950501 (AMR)
Genomes Max Group AF
0.28950501 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173222336G>T , CM000663.2:g.173222336G>T | GRCh38 |
| NC_000001.10:g.173191475G>T , CM000663.1:g.173191475G>T | GRCh37 |
| NC_000001.9:g.171458098G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017002229.1:c.25-15151C>A | XP_016857718.1:n.25-15151C>A | |
| XM_017002230.1:c.19-15151C>A | XP_016857719.1:n.19-15151C>A |