gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005872 (NFE)
Genomes Max Group AF
0.00005872 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151829204G>C , CM000663.2:g.151829204G>C | GRCh38 |
| NC_000001.10:g.151801680G>C , CM000663.1:g.151801680G>C | GRCh37 |
| NC_000001.9:g.150068304G>C | NCBI36 |
| NG_029118.1:g.7669C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.-130+225C>G | ENSP00000498548.2:n.-130+225C>G | |
| ENST00000697811.1:c.70+225C>G | ENSP00000513447.1:n.70+225C>G | |
| ENST00000697813.1:n.151+225C>G | ||
| ENST00000318247.7:c.70+225C>G MANE Select | ENSP00000327025.6:n.70+225C>G | |
| ENST00000638901.1:c.261+225C>G | ||
| ENST00000651814.1:c.70+225C>G | ENSP00000498691.1:n.70+225C>G | |
| ENST00000652040.1:c.-130+225C>G | ENSP00000498548.1:n.-130+225C>G | |
| ENST00000318247.6:c.70+225C>G | ENSP00000327025.6:n.70+225C>G | |
| NM_005060.3:c.70+225C>G | NP_005051.2:n.70+225C>G | |
| XM_006711484.2:c.469+225C>G | XP_006711547.2:n.469+225C>G | |
| XR_426792.2:n.749+225C>G | ||
| XM_006711484.4:c.469+225C>G | XP_006711547.2:n.469+225C>G | |
| NM_005060.4:c.70+225C>G MANE Select | NP_005051.2:n.70+225C>G |