gnomAD v4:
Joint Max Group AF
0.00000445 (AFR)
Exomes Max Group AF
0.00001003 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218265791G>C , CM000664.2:g.218265791G>C | GRCh38 |
| NC_000002.11:g.219130514G>C , CM000664.1:g.219130514G>C | GRCh37 |
| NC_000002.10:g.218838758G>C | NCBI36 |
| NG_017060.1:g.400G>C | |
| NG_033036.1:g.9380C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248450.9:c.879+40C>G MANE Select | ENSP00000248450.4:n.879+40C>G | |
| ENST00000248450.8:c.879+40C>G | ENSP00000248450.4:n.879+40C>G | |
| ENST00000420660.5:c.822+40C>G | ENSP00000416394.1:n.822+40C>G | |
| ENST00000422731.1:c.143+40C>G | ||
| ENST00000444053.5:c.882+40C>G | ENSP00000403343.1:n.882+40C>G | |
| ENST00000465442.1:n.642C>G | ||
| ENST00000475678.5:n.1333C>G | ||
| ENST00000489767.5:n.949C>G | ||
| ENST00000494720.5:n.131C>G | ||
| NM_001087.4:c.879+40C>G | NP_001078.2:n.879+40C>G | |
| NM_001302545.1:c.882+40C>G | NP_001289474.1:n.882+40C>G | |
| XM_024452712.1:c.879+40C>G | XP_024308480.1:n.879+40C>G | |
| NM_001087.5:c.879+40C>G MANE Select | NP_001078.2:n.879+40C>G | |
| NM_001302545.2:c.882+40C>G | NP_001289474.1:n.882+40C>G |