gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93292357 (AFR)
Genomes Max Group AF
0.93292357 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.164462274G>T , CM000667.2:g.164462274G>T | GRCh38 |
| NC_000005.9:g.163889280G>T , CM000667.1:g.163889280G>T | GRCh37 |
| NC_000005.8:g.163821858G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_105064.1:n.120+2525C>A (LINC02143) | ||
| XR_001742489.1:n.585+108050G>T (LINC03000) |