gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68478428 (EAS)
Genomes Max Group AF
0.68478428 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46965556G>C , CM000666.2:g.46965556G>C | GRCh38 |
| NC_000004.11:g.46967573G>C , CM000666.1:g.46967573G>C | GRCh37 |
| NC_000004.10:g.46662330G>C | NCBI36 |
| NG_011809.1:g.33008C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.875-327C>G MANE Select | ENSP00000264318.3:n.875-327C>G | |
| ENST00000264318.3:c.875-327C>G | ENSP00000264318.3:n.875-327C>G | |
| ENST00000508560.5:c.*696-327C>G | ENSP00000425445.1:n.*696-327C>G | |
| ENST00000511523.5:c.*543-327C>G | ENSP00000422152.1:n.*543-327C>G | |
| NM_000809.3:c.875-327C>G | NP_000800.2:n.875-327C>G | |
| NM_001204266.1:c.818-327C>G | NP_001191195.1:n.818-327C>G | |
| NM_001204267.1:c.665-327C>G | NP_001191196.1:n.665-327C>G | |
| XM_011513677.1:c.722-327C>G | XP_011511979.1:n.722-327C>G | |
| NM_000809.4:c.875-327C>G MANE Select | NP_000800.2:n.875-327C>G | |
| NM_001204266.2:c.818-327C>G | NP_001191195.1:n.818-327C>G | |
| NM_001204267.2:c.665-327C>G | NP_001191196.1:n.665-327C>G |