gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51498523 (AFR)
Genomes Max Group AF
0.51498523 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.15087403T>C , CM000672.2:g.15087403T>C | GRCh38 |
| NC_000010.10:g.15129402T>C , CM000672.1:g.15129402T>C | GRCh37 |
| NC_000010.9:g.15169408T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356189.6:c.12+1314A>G MANE Select | ENSP00000367453.4:n.12+1314A>G | |
| ENST00000356189.5:c.12+1314A>G | ENSP00000367453.4:n.12+1314A>G | |
| ENST00000496890.1:n.176+903A>G | ||
| NM_001039844.2:c.12+1314A>G | NP_001034933.1:n.12+1314A>G | |
| NR_144471.1:n.60+1314A>G | ||
| NM_001039844.3:c.12+1314A>G MANE Select | NP_001034933.1:n.12+1314A>G |