gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63825725 (EAS)
Genomes Max Group AF
0.63825725 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70904152G>C , CM000668.2:g.70904152G>C | GRCh38 |
| NC_000006.11:g.71613855G>C , CM000668.1:g.71613855G>C | GRCh37 |
| NC_000006.10:g.71670576G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230053.11:c.592-9880C>G MANE Select | ENSP00000230053.6:n.592-9880C>G | |
| ENST00000230053.10:c.592-9880C>G | ENSP00000230053.6:n.592-9880C>G | |
| ENST00000615536.1:c.376-9880C>G | ENSP00000481320.1:n.376-9880C>G | |
| NM_080742.2:c.592-9880C>G | NP_542780.1:n.592-9880C>G | |
| XM_006715346.2:c.592-9880C>G | XP_006715409.1:n.592-9880C>G | |
| XR_942675.1:n.312-343G>C | ||
| XR_942676.1:n.471-343G>C | ||
| XR_001744196.1:n.239-343G>C | ||
| XR_942676.2:n.471-343G>C | ||
| NM_080742.3:c.592-9880C>G MANE Select | NP_542780.1:n.592-9880C>G |