gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43424324C>G , CM000663.2:g.43424324C>G | GRCh38 |
| NC_000001.10:g.43889995C>G , CM000663.1:g.43889995C>G | GRCh37 |
| NC_000001.9:g.43662582C>G | NCBI36 |
| NG_029091.1:g.39440C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562955.2:c.2363C>G | ENSP00000457168.1:p.Ser788Ter | |
| ENST00000634258.3:c.2363C>G MANE Select | ENSP00000489255.1:p.Ser788Ter | |
| ENST00000470139.1:n.1094C>G | ||
| ENST00000562955.1:c.2363C>G | ENSP00000457168.1:p.Ser788Ter | |
| ENST00000634258.1:c.2363C>G | ENSP00000489255.1:p.Ser788Ter | |
| NM_015284.3:c.2363C>G | NP_056099.3:p.Ser788Ter | |
| XM_005270686.2:c.2426C>G | XP_005270743.1:p.Ser809Ter | |
| XM_006710501.2:c.2363C>G | XP_006710564.1:p.Ser788Ter | |
| XM_011541103.1:c.2480C>G | XP_011539405.1:p.Ser827Ter | |
| XM_011541104.1:c.2309C>G | XP_011539406.1:p.Ser770Ter | |
| XM_011541105.1:c.2306C>G | XP_011539407.1:p.Ser769Ter | |
| XM_011541106.1:c.2306C>G | XP_011539408.1:p.Ser769Ter | |
| XM_011541107.1:c.1907C>G | XP_011539409.1:p.Ser636Ter | |
| NM_001365999.1:c.2363C>G MANE Select | NP_001352928.1:p.Ser788Ter | |
| XM_005270686.3:c.2426C>G | XP_005270743.1:p.Ser809Ter | |
| XM_011541106.3:c.2306C>G | XP_011539408.1:p.Ser769Ter | |
| XM_011541107.2:c.1907C>G | XP_011539409.1:p.Ser636Ter | |
| XM_017000819.1:c.2426C>G | XP_016856308.1:p.Ser809Ter | |
| XM_017000820.1:c.2255C>G | XP_016856309.1:p.Ser752Ter | |
| XM_017000821.1:c.1055C>G | XP_016856310.1:p.Ser352Ter | |
| XR_001737075.1:n.2509C>G | ||
| XR_001737076.1:n.2511C>G | ||
| XR_001737077.1:n.2511C>G | ||
| XR_002956151.1:n.2509C>G | ||
| NM_015284.4:c.2363C>G | NP_056099.3:p.Ser788Ter |