gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54164751 (NFE)
Genomes Max Group AF
0.54164751 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89721313A>T , CM000666.2:g.89721313A>T | GRCh38 |
| NC_000004.11:g.90642464A>T , CM000666.1:g.90642464A>T | GRCh37 |
| NC_000004.10:g.90861487A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673902.1:c.390+7881T>A | ENSP00000501102.1:n.390+7881T>A | |
| XR_001741765.1:n.4196A>T | ||
| XR_001741766.1:n.2968A>T | ||
| XR_938982.2:n.4778A>T | ||
| XR_938984.2:n.4200A>T | ||
| XR_938985.2:n.3232A>T | ||
| XR_938986.2:n.1869A>T | ||
| XR_938987.2:n.2158A>T | ||
| XR_938989.2:n.1642A>T |