gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63602269 (NFE)
Genomes Max Group AF
0.63602269 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77931451G>C , CM000675.2:g.77931451G>C | GRCh38 |
| NC_000013.10:g.78505586G>C , CM000675.1:g.78505586G>C | GRCh37 |
| NC_000013.9:g.77403587G>C | NCBI36 |
| NG_011630.2:g.49079C>G | |
| NG_011630.3:g.48273C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646948.1:c.-51-12827C>G | ENSP00000493895.1:n.-51-12827C>G | |
| NM_000115.3:c.-51-12827C>G | NP_000106.1:n.-51-12827C>G | |
| NM_000115.4:c.-51-12827C>G | NP_000106.1:n.-51-12827C>G | |
| NM_000115.5:c.-51-12827C>G | NP_000106.1:n.-51-12827C>G |