ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88753944 (AFR)
Genomes Max Group AF
0.88753944 (AFR)
MyVariant.info:
GRCh38
chr9:g.133266456T>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133266456T>C , CM000671.2:g.133266456T>C | GRCh38 |
| NG_006669.2:g.13759A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.59-4288A>G | ||
| ENST00000647353.1:n.53+8706A>G | ||
| ENST00000651471.1:n.64-4288A>G | ||
| ENST00000679909.1:c.28+8706A>G | ENSP00000506089.1:n.28+8706A>G | |
| ENST00000453660.3:n.41-4288A>G | ||
| ENST00000538324.2:c.29-4288A>G | ENSP00000483018.1:n.29-4288A>G | |
| ENST00000611156.4:c.29-4288A>G | ENSP00000483265.1:n.29-4288A>G | |
| NM_020469.2:c.29-4288A>G | NP_065202.2:n.29-4288A>G | |
| NM_020469.3:c.29-4288A>G | NP_065202.2:n.29-4288A>G |