gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001725 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001544 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231241435C>T , CM000663.2:g.231241435C>T | GRCh38 |
| NC_000001.10:g.231377181C>T , CM000663.1:g.231377181C>T | GRCh37 |
| NC_000001.9:g.229443804C>T | NCBI36 |
| NG_008240.1:g.5263C>T | |
| NG_008240.2:g.5263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.57C>T MANE Select | ENSP00000355607.4:p.Ser19= | |
| ENST00000644483.1:c.57C>T | ENSP00000496537.1:p.Ser19= | |
| ENST00000366647.8:c.57C>T | ENSP00000355607.4:p.Ser19= | |
| ENST00000416000.1:c.57C>T | ENSP00000411640.1:p.Ser19= | |
| ENST00000436239.5:c.57C>T | ENSP00000402811.1:p.Ser19= | |
| NM_001316350.1:c.57C>T | NP_001303279.1:p.Ser19= | |
| NM_014236.3:c.57C>T | NP_055051.1:p.Ser19= | |
| XM_005273313.3:c.57C>T | XP_005273370.1:p.Ser19= | |
| XM_011544303.1:c.-359C>T | XP_011542605.1:n.-359C>T | |
| XM_011544304.1:c.-176C>T | XP_011542606.1:n.-176C>T | |
| XM_005273313.4:c.57C>T | XP_005273370.1:p.Ser19= | |
| XM_011544303.3:c.-359C>T | XP_011542605.1:n.-359C>T | |
| XM_011544304.2:c.-176C>T | XP_011542606.1:n.-176C>T | |
| NM_014236.4:c.57C>T MANE Select | NP_055051.1:p.Ser19= | |
| NM_001316350.2:c.57C>T | NP_001303279.1:p.Ser19= |