gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18177469 (SAS)
Genomes Max Group AF
0.18177469 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37952200C>T , CM000669.2:g.37952200C>T | GRCh38 |
| NC_000007.13:g.37991802C>T , CM000669.1:g.37991802C>T | GRCh37 |
| NC_000007.12:g.37958327C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447200.2:c.-52-25426G>A | ENSP00000402262.2:n.-52-25426G>A |