gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00187054 (SAS)
Genomes Max Group AF
0.00067942 (SAS)
Exomes Max Group AF
0.00190085 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6277569C>T , CM000666.2:g.6277569C>T | GRCh38 |
| NC_000004.11:g.6279296C>T , CM000666.1:g.6279296C>T | GRCh37 |
| NC_000004.10:g.6330197C>T | NCBI36 |
| NG_011700.1:g.12720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506588.6:n.284C>T | ||
| ENST00000682059.1:c.114C>T | ENSP00000507988.1:p.Ser38= | |
| ENST00000682275.1:c.114C>T | ENSP00000507852.1:p.Ser38= | |
| ENST00000683395.1:c.104C>T | ||
| ENST00000684054.1:c.114C>T | ENSP00000507120.1:p.Ser38= | |
| ENST00000684087.1:c.114C>T | ENSP00000506978.1:p.Ser38= | |
| ENST00000684700.1:c.114C>T | ENSP00000507806.1:p.Ser38= | |
| ENST00000506362.2:c.-18+7555C>T | ENSP00000424103.2:n.-18+7555C>T | |
| ENST00000673991.1:c.114C>T | ENSP00000501033.1:p.Ser38= | |
| ENST00000674051.1:c.66+48C>T | ENSP00000501083.1:n.66+48C>T | |
| ENST00000226760.5:c.114C>T MANE Select | ENSP00000226760.1:p.Ser38= | |
| ENST00000503569.5:c.114C>T | ENSP00000423337.1:p.Ser38= | |
| ENST00000506588.5:n.284C>T | ||
| NM_001145853.1:c.114C>T | NP_001139325.1:p.Ser38= | |
| NM_006005.3:c.114C>T MANE Select | NP_005996.2:p.Ser38= | |
| XM_017008586.1:c.123C>T | XP_016864075.1:p.Ser41= |