gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90802488 (NFE)
Genomes Max Group AF
0.90802488 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2408503T>C , CM000673.2:g.2408503T>C | GRCh38 |
| NC_000011.9:g.2429733T>C , CM000673.1:g.2429733T>C | GRCh37 |
| NC_000011.8:g.2386309T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696290.1:c.2783-591A>G MANE Select | ENSP00000512529.1:n.2783-591A>G | |
| ENST00000155858.10:c.2783-591A>G | ENSP00000155858.5:n.2783-591A>G | |
| ENST00000528453.1:c.2783-591A>G | ENSP00000436809.1:n.2783-591A>G | |
| ENST00000533060.5:c.2783-591A>G | ENSP00000434121.1:n.2783-591A>G | |
| ENST00000533881.5:c.2765-591A>G | ENSP00000434383.1:n.2765-591A>G | |
| NM_014555.3:c.2783-591A>G | NP_055370.1:n.2783-591A>G | |
| XM_011520035.1:c.3044-591A>G | XP_011518337.1:n.3044-591A>G | |
| XM_017017628.1:c.2837-591A>G | XP_016873117.1:n.2837-591A>G | |
| NM_014555.4:c.2783-591A>G MANE Select | NP_055370.1:n.2783-591A>G |