gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34676808 (AFR)
Genomes Max Group AF
0.34676808 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.78633453T>C , CM000675.2:g.78633453T>C | GRCh38 |
| NC_000013.10:g.79207588T>C , CM000675.1:g.79207588T>C | GRCh37 |
| NC_000013.9:g.78105589T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282003.7:c.638+1657A>G MANE Select | ENSP00000282003.6:n.638+1657A>G | |
| ENST00000282003.6:c.638+1657A>G | ENSP00000282003.6:n.638+1657A>G | |
| NM_024546.3:c.638+1657A>G | NP_078822.3:n.638+1657A>G | |
| XM_006719865.2:c.407+1657A>G | XP_006719928.1:n.407+1657A>G | |
| XM_011535225.1:c.407+1657A>G | XP_011533527.1:n.407+1657A>G | |
| XM_024449410.1:c.407+1657A>G | XP_024305178.1:n.407+1657A>G | |
| NM_024546.4:c.638+1657A>G MANE Select | NP_078822.3:n.638+1657A>G |