gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004625 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.0000462 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67658175G>A , CM000678.2:g.67658175G>A | GRCh38 |
| NC_000016.9:g.67692078G>A , CM000678.1:g.67692078G>A | GRCh37 |
| NC_000016.8:g.66249579G>A | NCBI36 |
| NG_042874.1:g.7641C>T | |
| NG_054728.1:g.18257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602382.6:c.830-147C>T | ENSP00000473313.2:n.830-147C>T | |
| ENST00000602780.2:n.2022C>T | ||
| ENST00000602850.6:c.*797C>T | ENSP00000473595.3:n.*797C>T | |
| ENST00000602860.6:n.1937C>T | ||
| ENST00000695641.1:n.2126C>T | ||
| ENST00000695648.1:c.999C>T | ENSP00000512081.1:p.Ser333= | |
| ENST00000695656.1:n.1845C>T | ||
| ENST00000695657.1:n.1335C>T | ||
| ENST00000695658.1:c.986+31C>T | ENSP00000512088.1:n.986+31C>T | |
| ENST00000695659.1:c.1017C>T | ENSP00000512089.1:p.Ser339= | |
| ENST00000695660.1:n.1641C>T | ||
| ENST00000695662.1:c.*496C>T | ENSP00000512091.1:n.*496C>T | |
| ENST00000695694.1:c.972C>T | ENSP00000512105.1:p.Ser324= | |
| ENST00000695695.1:n.1083C>T | ||
| ENST00000695696.1:n.1211-147C>T | ||
| ENST00000695697.1:c.930C>T | ENSP00000512106.1:p.Ser310= | |
| ENST00000695698.1:n.1267C>T | ||
| ENST00000695699.1:n.1305C>T | ||
| ENST00000695700.1:n.1574C>T | ||
| ENST00000695709.1:n.482-322C>T | ||
| ENST00000695710.1:n.1651C>T | ||
| ENST00000695711.1:c.*325C>T | ENSP00000512109.1:n.*325C>T | |
| ENST00000695712.1:c.*767C>T | ENSP00000512110.1:n.*767C>T | |
| ENST00000695731.1:c.340C>T | ||
| ENST00000695732.1:c.646-322C>T | ENSP00000512125.1:n.646-322C>T | |
| ENST00000695733.1:c.743-147C>T | ENSP00000512126.1:n.743-147C>T | |
| ENST00000695734.1:c.1017C>T | ENSP00000512127.1:p.Ser339= | |
| ENST00000695735.1:n.427C>T | ||
| ENST00000219251.13:c.1008C>T | ENSP00000219251.8:p.Ser336= | |
| ENST00000620761.6:c.1017C>T MANE Select | ENSP00000478084.1:p.Ser339= | |
| ENST00000219251.12:c.1266C>T | ENSP00000219251.7:p.Ser422= | |
| ENST00000393919.8:c.1275C>T | ENSP00000377496.4:p.Ser425= | |
| ENST00000602320.1:c.1008C>T | ENSP00000473679.2:p.Ser336= | |
| ENST00000602382.5:c.372-147C>T | ||
| ENST00000602622.5:n.2016C>T | ||
| ENST00000602656.1:n.149C>T | ||
| ENST00000602850.5:c.848C>T | ENSP00000473595.2:n.848C>T | |
| ENST00000602860.5:n.1455C>T | ||
| ENST00000620338.4:c.1275C>T | ENSP00000483117.1:p.Ser425= | |
| ENST00000620761.4:c.1017C>T | ENSP00000478084.1:p.Ser339= | |
| NM_001082486.1:c.1275C>T | NP_001075955.1:p.Ser425= | |
| NM_001082487.1:c.1266C>T | NP_001075956.1:p.Ser422= | |
| NM_022914.2:c.1266C>T | NP_075065.2:p.Ser422= | |
| XM_005256115.2:c.1188C>T | XP_005256172.1:p.Ser396= | |
| XR_429727.2:n.1628C>T | ||
| NM_001082486.2:c.1017C>T MANE Select | NP_001075955.2:p.Ser339= | |
| NM_022914.3:c.1008C>T | NP_075065.3:p.Ser336= | |
| XM_005256115.4:c.1188C>T | XP_005256172.1:p.Ser396= | |
| XR_429727.3:n.1641C>T |