gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72320837 (NFE)
Genomes Max Group AF
0.72320837 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15415414T>C , CM000685.2:g.15415414T>C | GRCh38 |
| NC_000023.10:g.15433536T>C , CM000685.1:g.15433536T>C | GRCh37 |
| NC_000023.9:g.15343457T>C | NCBI36 |
| NG_012549.1:g.82929A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380420.10:c.566-7864A>G MANE Select | ENSP00000369785.5:n.566-7864A>G | |
| ENST00000380420.9:c.566-7864A>G | ENSP00000369785.5:n.566-7864A>G | |
| ENST00000380421.3:c.566-7864A>G | ENSP00000369786.3:n.566-7864A>G | |
| NM_001018109.2:c.566-7864A>G | NP_001018119.1:n.566-7864A>G | |
| NM_003662.3:c.566-7864A>G | NP_003653.1:n.566-7864A>G | |
| NR_037859.2:n.618-7864A>G | ||
| NM_001018109.3:c.566-7864A>G MANE Select | NP_001018119.1:n.566-7864A>G | |
| NM_003662.4:c.566-7864A>G | NP_003653.1:n.566-7864A>G |