gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76724146 (AFR)
Genomes Max Group AF
0.76724146 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19568371G>C , CM000686.2:g.19568371G>C | GRCh38 |
| NC_000024.9:g.21730257G>C , CM000686.1:g.21730257G>C | GRCh37 |
| NC_000024.8:g.20189645G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685919.1:n.1020G>C | ||
| ENST00000686158.1:n.199+801G>C | ||
| ENST00000686905.1:n.133+889G>C | ||
| ENST00000688167.1:n.1020G>C | ||
| ENST00000688449.1:n.533G>C | ||
| ENST00000689102.1:n.541G>C | ||
| ENST00000691331.1:n.541G>C | ||
| ENST00000691759.1:n.533G>C | ||
| ENST00000693214.1:n.221+801G>C | ||
| ENST00000445715.6:n.101+889G>C | ||
| ENST00000407724.7:n.170+889G>C | ||
| ENST00000445715.5:n.101+889G>C | ||
| ENST00000447202.2:n.123+420G>C | ||
| ENST00000447520.5:n.101+889G>C | ||
| ENST00000459719.6:n.221+801G>C | ||
| ENST00000538014.2:n.165+420G>C | ||
| NR_045128.1:n.125+889G>C | ||
| NR_045129.1:n.125+889G>C |