gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44473713 (NFE)
Genomes Max Group AF
0.44473713 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109295217T>C , CM000668.2:g.109295217T>C | GRCh38 |
| NC_000006.11:g.109616420T>C , CM000668.1:g.109616420T>C | GRCh37 |
| NC_000006.10:g.109723113T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429614.6:n.157-310T>C | ||
| ENST00000691019.1:n.200-310T>C | ||
| ENST00000368966.10:n.3895-310T>C | ||
| ENST00000638844.1:n.151-310T>C | ||
| ENST00000368966.8:n.151-310T>C | ||
| ENST00000422819.5:n.157-310T>C | ||
| ENST00000429614.5:n.157-310T>C | ||
| ENST00000514758.5:n.518-310T>C | ||
| ENST00000615766.4:n.468-310T>C | ||
| NR_028595.1:n.157-310T>C | ||
| NR_152435.1:n.3863-310T>C |