gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18765333 (NFE)
Genomes Max Group AF
0.18831495 (NFE)
Exomes Max Group AF
0.17344106 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.96020673T>C , CM000674.2:g.96020673T>C | GRCh38 |
| NC_000012.11:g.96414451T>C , CM000674.1:g.96414451T>C | GRCh37 |
| NC_000012.10:g.94938582T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228740.7:c.638+412A>G MANE Select | ENSP00000228740.2:n.638+412A>G | |
| ENST00000228740.6:c.638+412A>G | ENSP00000228740.2:n.638+412A>G | |
| ENST00000413268.6:c.566+412A>G | ENSP00000395051.2:n.566+412A>G | |
| ENST00000548852.5:c.*178+412A>G | ENSP00000449340.1:n.*178+412A>G | |
| ENST00000552789.5:c.566+412A>G | ENSP00000449958.1:n.566+412A>G | |
| ENST00000553041.5:n.716+17A>G | ||
| NM_000895.2:c.638+412A>G | NP_000886.1:n.638+412A>G | |
| NM_001256643.1:c.566+412A>G | NP_001243572.1:n.566+412A>G | |
| NM_001256644.1:c.566+412A>G | NP_001243573.1:n.566+412A>G | |
| NR_132659.1:n.719+412A>G | ||
| XM_005268871.1:c.638+412A>G | XP_005268928.1:n.638+412A>G | |
| XM_011538348.1:c.638+412A>G | XP_011536650.1:n.638+412A>G | |
| XM_011538349.1:c.638+412A>G | XP_011536651.1:n.638+412A>G | |
| XM_005268871.2:c.638+412A>G | XP_005268928.1:n.638+412A>G | |
| XM_011538349.3:c.638+412A>G | XP_011536651.1:n.638+412A>G | |
| XR_001748703.2:n.739+412A>G | ||
| XR_002957326.1:n.739+412A>G | ||
| NM_000895.3:c.638+412A>G MANE Select | NP_000886.1:n.638+412A>G | |
| NR_132659.2:n.645+412A>G |