gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71031719 (EAS)
Genomes Max Group AF
0.71031719 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70572684T>C , CM000672.2:g.70572684T>C | GRCh38 |
| NC_000010.10:g.72332440T>C , CM000672.1:g.72332440T>C | GRCh37 |
| NC_000010.9:g.72002446T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.2418+8165T>C | ENSP00000513342.1:n.2418+8165T>C | |
| ENST00000697572.1:c.2250+8165T>C | ENSP00000513343.1:n.2250+8165T>C | |
| ENST00000697573.1:c.2262+25238T>C | ENSP00000513344.1:n.2262+25238T>C | |
| ENST00000697577.1:n.2722+8165T>C | ||
| ENST00000697578.1:n.2566+25238T>C |