gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22265806 (AFR)
Genomes Max Group AF
0.22265806 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19564502G>A , CM000686.2:g.19564502G>A | GRCh38 |
| NC_000024.9:g.21726388G>A , CM000686.1:g.21726388G>A | GRCh37 |
| NC_000024.8:g.20185776G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000693243.1:n.26+2480C>T | ||
| ENST00000650676.1:n.111+2480C>T | ||
| ENST00000651484.1:n.70+2480C>T | ||
| XR_938628.1:n.270+2480C>T | ||
| XR_001756064.2:n.198+2480C>T | ||
| XR_001756065.1:n.198+2480C>T | ||
| XR_001756066.1:n.198+2480C>T | ||
| XR_938628.3:n.198+2480C>T |