gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77416793 (EAS)
Genomes Max Group AF
0.77416793 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99280582G>C , CM000666.2:g.99280582G>C | GRCh38 |
| NC_000004.11:g.100201739G>C , CM000666.1:g.100201739G>C | GRCh37 |
| NC_000004.10:g.100420762G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209668.3:c.829-303C>G MANE Select | ENSP00000209668.2:n.829-303C>G | |
| ENST00000209668.2:c.829-303C>G | ENSP00000209668.2:n.829-303C>G | |
| NM_000667.3:c.829-303C>G | NP_000658.1:n.829-303C>G | |
| NR_037884.1:n.3790-6213G>C | ||
| NM_000667.4:c.829-303C>G MANE Select | NP_000658.1:n.829-303C>G |