gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08634323 (AFR)
Genomes Max Group AF
0.08634323 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157518140T>C , CM000667.2:g.157518140T>C | GRCh38 |
| NC_000005.9:g.156945148T>C , CM000667.1:g.156945148T>C | GRCh37 |
| NC_000005.8:g.156877726T>C | NCBI36 |
| NG_046960.1:g.62684A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257527.9:c.666+683A>G MANE Select | ENSP00000257527.5:n.666+683A>G | |
| ENST00000257527.8:c.666+683A>G | ENSP00000257527.4:n.666+683A>G | |
| ENST00000517905.1:c.666+683A>G | ENSP00000428654.1:n.666+683A>G | |
| ENST00000517951.5:c.666+683A>G | ENSP00000428376.1:n.666+683A>G | |
| NM_033274.4:c.666+683A>G | NP_150377.1:n.666+683A>G | |
| XM_005266003.2:c.666+683A>G | XP_005266060.1:n.666+683A>G | |
| XM_011534680.1:c.-135-4635A>G | XP_011532982.1:n.-135-4635A>G | |
| XM_011534681.1:c.-145-4635A>G | XP_011532983.1:n.-145-4635A>G | |
| NM_033274.5:c.666+683A>G MANE Select | NP_150377.1:n.666+683A>G |