gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70990303 (EAS)
Genomes Max Group AF
0.70990303 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81741193T>C , CM000678.2:g.81741193T>C | GRCh38 |
| NC_000016.9:g.81774798T>C , CM000678.1:g.81774798T>C | GRCh37 |
| NC_000016.8:g.80332299T>C | NCBI36 |
| NG_032019.2:g.7097T>C , LRG_376:g.7097T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565054.5:c.-145+1808T>C | ENSP00000455956.1:n.-145+1808T>C | |
| XR_933789.1:n.406+1757T>C | ||
| XR_933790.1:n.406+1757T>C | ||
| XR_933791.1:n.406+1757T>C | ||
| XR_933792.1:n.406+1757T>C | ||
| XR_933794.1:n.406+1757T>C | ||
| XR_933795.1:n.406+1757T>C |