gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90602332 (EAS)
Genomes Max Group AF
0.90602332 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.51029595T>C , CM000672.2:g.51029595T>C | GRCh38 |
| NC_000010.10:g.52789355T>C , CM000672.1:g.52789355T>C | GRCh37 |
| NC_000010.9:g.52459361T>C | NCBI36 |
| NG_029982.1:g.43445T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401604.8:c.266+37951T>C | ENSP00000384200.4:n.266+37951T>C | |
| ENST00000373985.5:c.266+37951T>C | ENSP00000363097.2:n.266+37951T>C | |
| NM_001098512.2:c.266+37951T>C | NP_001091982.1:n.266+37951T>C | |
| NM_001098512.3:c.266+37951T>C | NP_001091982.1:n.266+37951T>C |