gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01400997 (AMR)
Genomes Max Group AF
0.01402212 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12417831G>A , CM000686.2:g.12417831G>A | GRCh38 |
| NC_000024.9:g.14529630G>A , CM000686.1:g.14529630G>A | GRCh37 |
| NC_000024.8:g.13039638G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.4:n.7+2485C>T | ||
| ENST00000382965.3:n.174+2485C>T | ||
| ENST00000689264.1:n.259+2485C>T | ||
| ENST00000651802.1:n.191+2485C>T | ||
| ENST00000651835.1:n.177+2485C>T | ||
| ENST00000357871.6:n.141+2485C>T | ||
| ENST00000382963.5:n.57+2485C>T | ||
| ENST00000382965.2:n.7+2485C>T | ||
| ENST00000382966.5:n.141+2485C>T | ||
| ENST00000493160.5:n.405+59C>T | ||
| NR_033667.1:n.180+2485C>T |