gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12797487 (NFE)
Genomes Max Group AF
0.12797487 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.44480955T>C , CM000675.2:g.44480955T>C | GRCh38 |
| NC_000013.10:g.45055091T>C , CM000675.1:g.45055091T>C | GRCh37 |
| NC_000013.9:g.43953091T>C | NCBI36 |
| NG_029852.1:g.100611A>G | |
| NG_029852.2:g.100611A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458659.3:c.2913-44860A>G MANE Select | ENSP00000397435.2:n.2913-44860A>G | |
| ENST00000458659.2:c.2913-44860A>G | ENSP00000397435.2:n.2913-44860A>G | |
| ENST00000501704.3:c.1664-46941A>G | ENSP00000437414.1:n.1664-46941A>G | |
| NM_001243799.1:c.1664-46941A>G | NP_001230728.1:n.1664-46941A>G | |
| NM_183422.3:c.2913-44860A>G | NP_904358.2:n.2913-44860A>G | |
| XM_024449427.1:c.2913-44860A>G | XP_024305195.1:n.2913-44860A>G | |
| NM_183422.4:c.2913-44860A>G MANE Select | NP_904358.2:n.2913-44860A>G |