gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59386947 (EAS)
Genomes Max Group AF
0.59386947 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30880476T>C , CM000668.2:g.30880476T>C | GRCh38 |
| NC_000006.11:g.30848253T>C , CM000668.1:g.30848253T>C | GRCh37 |
| NC_000006.10:g.30956232T>C | NCBI36 |
| NG_029066.1:g.1393T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502955.5:c.-270-422T>C | ENSP00000424346.1:n.-270-422T>C | |
| ENST00000505066.5:c.-43+3917T>C | ENSP00000421189.1:n.-43+3917T>C |