ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17928774 (NFE)
Genomes Max Group AF
0.17786978 (NFE)
Exomes Max Group AF
0.17921643 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133262243T>C , CM000671.2:g.133262243T>C | GRCh38 |
| NC_000009.11:g.136137646T>C , CM000671.1:g.136137646T>C | GRCh37 |
| NC_000009.10:g.135127467T>C | NCBI36 |
| NG_006669.1:g.15406A>G | |
| NG_006669.2:g.17972A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.59-75A>G | ||
| ENST00000647353.1:n.54-11091A>G | ||
| ENST00000651471.1:n.64-75A>G | ||
| ENST00000679909.1:c.28+12919A>G | ENSP00000506089.1:n.28+12919A>G | |
| ENST00000453660.3:n.41-75A>G | ||
| ENST00000538324.2:c.29-75A>G | ENSP00000483018.1:n.29-75A>G | |
| ENST00000611156.4:c.29-75A>G | ENSP00000483265.1:n.29-75A>G | |
| NM_020469.2:c.29-75A>G | NP_065202.2:n.29-75A>G | |
| NM_020469.3:c.29-75A>G | NP_065202.2:n.29-75A>G |