gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31812443 (EAS)
Genomes Max Group AF
0.31812443 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.114262697C>T , CM000673.2:g.114262697C>T | GRCh38 |
| NC_000011.9:g.114133419C>T , CM000673.1:g.114133419C>T | GRCh37 |
| NC_000011.8:g.113638629C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535185.5:n.93-151C>T | ||
| ENST00000535401.5:c.-216-151C>T | ENSP00000441434.1:n.-216-151C>T | |
| NM_001372047.1:c.-216-151C>T | NP_001358976.1:n.-216-151C>T | |
| NR_164073.1:n.287-151C>T |