gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92797144 (AFR)
Genomes Max Group AF
0.92797144 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.38021183T>C , CM000669.2:g.38021183T>C | GRCh38 |
| NC_000007.13:g.38060785T>C , CM000669.1:g.38060785T>C | GRCh37 |
| NC_000007.12:g.38027310T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447200.2:c.-53+4127A>G | ENSP00000402262.2:n.-53+4127A>G | |
| XR_927181.1:n.576+7602T>C | ||
| XR_001745170.1:n.832+7602T>C |