gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54660643 (AFR)
Genomes Max Group AF
0.54660643 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2962287T>C , CM000670.2:g.2962287T>C | GRCh38 |
| NC_000008.10:g.2819809T>C , CM000670.1:g.2819809T>C | GRCh37 |
| NC_000008.9:g.2807216T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635120.2:c.9628+179A>G MANE Select | ENSP00000489225.1:n.9628+179A>G | |
| ENST00000335551.11:c.7880+179A>G | ||
| ENST00000400186.7:c.9100+179A>G | ENSP00000383047.3:n.9100+179A>G | |
| ENST00000520002.5:c.9631+179A>G | ENSP00000430733.1:n.9631+179A>G | |
| ENST00000537824.2:c.9214+179A>G | ENSP00000441462.2:n.9214+179A>G | |
| ENST00000602557.5:c.9631+179A>G | ENSP00000473359.1:n.9631+179A>G | |
| ENST00000602723.5:c.9100+179A>G | ENSP00000473617.1:n.9100+179A>G | |
| ENST00000635120.1:c.9628+179A>G | ENSP00000489225.1:n.9628+179A>G | |
| NM_033225.5:c.9628+179A>G | NP_150094.5:n.9628+179A>G | |
| XM_011534752.1:c.9628+179A>G | XP_011533054.1:n.9628+179A>G | |
| XM_011534753.1:c.6721+179A>G | XP_011533055.1:n.6721+179A>G | |
| XM_011534754.1:c.5650+179A>G | XP_011533056.1:n.5650+179A>G | |
| XM_011534752.2:c.9628+179A>G | XP_011533054.1:n.9628+179A>G | |
| XM_011534753.3:c.6721+179A>G | XP_011533055.1:n.6721+179A>G | |
| XM_017013731.1:c.9628+179A>G | XP_016869220.1:n.9628+179A>G | |
| NM_033225.6:c.9628+179A>G MANE Select | NP_150094.5:n.9628+179A>G | |
| NR_168441.1:n.1167-38718T>C | ||
| NR_168442.1:n.2191+35657T>C | ||
| NR_168443.1:n.1172-46281T>C | ||
| NR_168444.1:n.1167-27251T>C | ||
| NR_168445.1:n.1250-27251T>C |