gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5687045 (EAS)
Genomes Max Group AF
0.5687045 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.10725733T>C , CM000666.2:g.10725733T>C | GRCh38 |
| NC_000004.11:g.10727357T>C , CM000666.1:g.10727357T>C | GRCh37 |
| NC_000004.10:g.10336455T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011513775.1:c.3+8795A>G | XP_011512077.1:n.3+8795A>G | |
| XM_011513775.2:c.3+8795A>G | XP_011512077.1:n.3+8795A>G | |
| XM_017007684.1:c.3+8795A>G | XP_016863173.1:n.3+8795A>G | |
| XM_017007685.1:c.3+8795A>G | XP_016863174.1:n.3+8795A>G |