gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000557 (NFE)
Exomes Max Group AF
0.0000047 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17386704G>C , CM000673.2:g.17386704G>C | GRCh38 |
| NC_000011.9:g.17408251G>C , CM000673.1:g.17408251G>C | GRCh37 |
| NC_000011.8:g.17364827G>C | NCBI36 |
| NG_012446.1:g.6956C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.*215C>G | ENSP00000508090.1:n.*215C>G | |
| ENST00000682764.1:c.*50+165C>G | ENSP00000506780.1:n.*50+165C>G | |
| ENST00000339994.5:c.*215C>G MANE Select | ENSP00000345708.4:n.*215C>G | |
| ENST00000339994.4:c.*215C>G | ENSP00000345708.4:n.*215C>G | |
| ENST00000526747.1:n.47C>G | ||
| ENST00000528731.1:c.*215C>G | ENSP00000434755.1:n.*215C>G | |
| NM_000525.3:c.*215C>G | NP_000516.3:n.*215C>G | |
| NM_001166290.1:c.*215C>G | NP_001159762.1:n.*215C>G | |
| XM_006718226.2:c.*215C>G | XP_006718289.1:n.*215C>G | |
| XR_930867.1:n.1381+165C>G | ||
| XM_006718226.3:c.*215C>G | XP_006718289.1:n.*215C>G | |
| XM_017017680.1:c.*215C>G | XP_016873169.1:n.*215C>G | |
| NM_001166290.2:c.*215C>G | NP_001159762.1:n.*215C>G | |
| NM_001377296.1:c.*215C>G | NP_001364225.1:n.*215C>G | |
| NM_001377297.1:c.*215C>G | NP_001364226.1:n.*215C>G | |
| NM_000525.4:c.*215C>G MANE Select | NP_000516.3:n.*215C>G |