gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001172 (NFE)
Genomes Max Group AF
0.00001172 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117465017C>T , CM000668.2:g.117465017C>T | GRCh38 |
| NC_000006.11:g.117786180C>T , CM000668.1:g.117786180C>T | GRCh37 |
| NC_000006.10:g.117892873C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467125.1:c.547+101837G>A | ENSP00000487717.1:n.547+101837G>A | |
| ENST00000525483.5:n.81+11120C>T | ||
| ENST00000528138.5:n.191+852C>T | ||
| ENST00000533950.1:n.64+11120C>T | ||
| XM_011535770.1:c.27+11120C>T | XP_011534072.1:n.27+11120C>T | |
| XM_011535772.1:c.-308+11120C>T | XP_011534074.1:n.-308+11120C>T |