gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49098525 (SAS)
Genomes Max Group AF
0.4825778 (AFR)
Exomes Max Group AF
0.4908366 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13865843G>C , CM000674.2:g.13865843G>C | GRCh38 |
| NC_000012.11:g.14018777G>C , CM000674.1:g.14018777G>C | GRCh37 |
| NC_000012.10:g.13910044G>C | NCBI36 |
| NG_031854.1:g.119246C>G | |
| NG_031854.2:g.121170C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.366C>G MANE Select | ENSP00000477455.1:p.Pro122= | |
| ENST00000630791.2:c.366C>G | ENSP00000486677.2:p.Pro122= | |
| ENST00000609686.3:c.366C>G | ENSP00000477455.1:p.Pro122= | |
| NM_000834.3:c.366C>G | NP_000825.2:p.Pro122= | |
| XM_011520628.1:c.366C>G | XP_011518930.1:p.Pro122= | |
| XM_011520629.1:c.366C>G | XP_011518931.1:p.Pro122= | |
| XM_011520630.1:c.366C>G | XP_011518932.1:p.Pro122= | |
| NM_000834.4:c.366C>G | NP_000825.2:p.Pro122= | |
| XM_011520628.2:c.366C>G | XP_011518930.1:p.Pro122= | |
| XM_011520629.2:c.366C>G | XP_011518931.1:p.Pro122= | |
| XM_017019219.2:c.366C>G | XP_016874708.1:p.Pro122= | |
| NM_000834.5:c.366C>G MANE Select | NP_000825.2:p.Pro122= |