gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50853152 (EAS)
Genomes Max Group AF
0.50853152 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67750719C>G , CM000677.2:g.67750719C>G | GRCh38 |
| NC_000015.9:g.68043057C>G , CM000677.1:g.68043057C>G | GRCh37 |
| NC_000015.8:g.65830111C>G | NCBI36 |
| NG_029143.1:g.213037C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000178640.10:c.1134+2118C>G MANE Select | ENSP00000178640.5:n.1134+2118C>G | |
| ENST00000178640.9:c.1134+2118C>G | ENSP00000178640.5:n.1134+2118C>G | |
| ENST00000340972.8:c.564+2118C>G | ENSP00000342101.4:n.564+2118C>G | |
| ENST00000354498.9:c.1026+2118C>G | ENSP00000346493.5:n.1026+2118C>G | |
| ENST00000395476.6:c.1104+2118C>G | ENSP00000378859.2:n.1104+2118C>G | |
| ENST00000557869.2:c.84+2118C>G | ENSP00000483771.1:n.84+2118C>G | |
| ENST00000558021.1:n.234+2118C>G | ||
| ENST00000558274.1:n.218+2118C>G | ||
| ENST00000558392.5:n.960+2118C>G | ||
| NM_001206804.1:c.1026+2118C>G | NP_001193733.1:n.1026+2118C>G | |
| NM_002757.3:c.1104+2118C>G | NP_002748.1:n.1104+2118C>G | |
| NM_145160.2:c.1134+2118C>G | NP_660143.1:n.1134+2118C>G | |
| XM_011521784.1:c.1134+2118C>G | XP_011520086.1:n.1134+2118C>G | |
| XM_011521785.1:c.1134+2118C>G | XP_011520087.1:n.1134+2118C>G | |
| XM_011521786.1:c.1107+2118C>G | XP_011520088.1:n.1107+2118C>G | |
| XM_024449988.1:c.903+2118C>G | XP_024305756.1:n.903+2118C>G | |
| NM_145160.3:c.1134+2118C>G MANE Select | NP_660143.1:n.1134+2118C>G | |
| NM_001206804.2:c.1026+2118C>G | NP_001193733.1:n.1026+2118C>G | |
| NM_002757.4:c.1104+2118C>G | NP_002748.1:n.1104+2118C>G |