gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09458796 (AFR)
Genomes Max Group AF
0.09458796 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68202881T>C , CM000674.2:g.68202881T>C | GRCh38 |
| NC_000012.11:g.68596661T>C , CM000674.1:g.68596661T>C | GRCh37 |
| NC_000012.10:g.66882928T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229134.5:c.364-798A>G MANE Select | ENSP00000229134.4:n.364-798A>G | |
| ENST00000229134.4:c.364-798A>G | ENSP00000229134.4:n.364-798A>G | |
| NM_018402.1:c.364-798A>G | NP_060872.1:n.364-798A>G | |
| XM_011538568.1:c.364-798A>G | XP_011536870.1:n.364-798A>G | |
| XR_945055.1:n.264+4153T>C | ||
| XR_002957418.1:n.280+4153T>C | ||
| NM_018402.2:c.364-798A>G MANE Select | NP_060872.1:n.364-798A>G |