gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29170092 (AFR)
Genomes Max Group AF
0.29170092 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73981235C>T , CM000664.2:g.73981235C>T | GRCh38 |
| NC_000002.11:g.74208362C>T , CM000664.1:g.74208362C>T | GRCh37 |
| NC_000002.10:g.74061870C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_104029.1:n.205G>A | ||
| NR_104030.1:n.205G>A |