gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16024298 (AFR)
Genomes Max Group AF
0.16024298 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46969992A>C , CM000666.2:g.46969992A>C | GRCh38 |
| NC_000004.11:g.46972009A>C , CM000666.1:g.46972009A>C | GRCh37 |
| NC_000004.10:g.46666766A>C | NCBI36 |
| NG_011809.1:g.28572T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.874+1091T>G MANE Select | ENSP00000264318.3:n.874+1091T>G | |
| ENST00000264318.3:c.874+1091T>G | ENSP00000264318.3:n.874+1091T>G | |
| ENST00000508560.5:c.*695+1091T>G | ENSP00000425445.1:n.*695+1091T>G | |
| ENST00000511523.5:c.*542+4240T>G | ENSP00000422152.1:n.*542+4240T>G | |
| NM_000809.3:c.874+1091T>G | NP_000800.2:n.874+1091T>G | |
| NM_001204266.1:c.817+1091T>G | NP_001191195.1:n.817+1091T>G | |
| NM_001204267.1:c.664+4240T>G | NP_001191196.1:n.664+4240T>G | |
| XM_011513677.1:c.721+4240T>G | XP_011511979.1:n.721+4240T>G | |
| NM_000809.4:c.874+1091T>G MANE Select | NP_000800.2:n.874+1091T>G | |
| NM_001204266.2:c.817+1091T>G | NP_001191195.1:n.817+1091T>G | |
| NM_001204267.2:c.664+4240T>G | NP_001191196.1:n.664+4240T>G |