dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41276829 (SAS)
Genomes Max Group AF
0.30644233 (NFE)
Exomes Max Group AF
0.53331803 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29831026C>G , CM000668.2:g.29831026C>G | GRCh38 |
| NC_000006.11:g.29798803C>G , CM000668.1:g.29798803C>G | GRCh37 |
| NC_000006.10:g.29906782C>G | NCBI36 |
| NG_029039.1:g.9048C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360323.10:c.*287C>G | ENSP00000353472.6:n.*287C>G | |
| ENST00000376815.3:c.752C>G | ENSP00000366011.3:n.752C>G | |
| ENST00000376818.7:c.1028C>G | ENSP00000366014.3:n.1028C>G | |
| ENST00000376828.6:c.*287C>G | ENSP00000366024.2:n.*287C>G | |
| ENST00000428701.5:c.*287C>G | ENSP00000412927.1:n.*287C>G | |
| ENST00000478355.5:n.1426C>G | ||
| ENST00000478519.5:c.1076C>G | ENSP00000436375.1:n.1076C>G | |
| NM_002127.5:c.*287C>G | NP_002118.1:n.*287C>G | |
| NM_001363567.1:c.*287C>G | NP_001350496.1:n.*287C>G | |
| XM_017010817.1:c.*287C>G | XP_016866306.1:n.*287C>G |