gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40517549 (EAS)
Genomes Max Group AF
0.40517549 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.242106609C>T , CM000664.2:g.242106609C>T | GRCh38 |
| NC_000002.11:g.243048760C>T , CM000664.1:g.243048760C>T | GRCh37 |
| NC_000002.10:g.242697433C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444990.6:n.285-8030C>T | ||
| ENST00000682782.1:n.229-8030C>T | ||
| ENST00000685837.1:n.251-8030C>T | ||
| ENST00000692555.1:n.301+11582C>T | ||
| ENST00000416103.2:n.135-8030C>T | ||
| ENST00000431796.5:n.251-8030C>T | ||
| ENST00000444990.5:n.265-8030C>T | ||
| ENST00000456398.5:n.311-8030C>T | ||
| ENST00000614114.4:n.248-8030C>T | ||
| ENST00000622435.4:n.259+11582C>T | ||
| NR_130699.1:n.311-8030C>T | ||
| NR_130700.1:n.310+11582C>T | ||
| NR_130701.1:n.311-8030C>T | ||
| NR_130702.1:n.311-8030C>T |