gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00030949 (NFE)
Genomes Max Group AF
0.00014673 (NFE)
Exomes Max Group AF
0.00031489 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11950357C>T , CM000663.2:g.11950357C>T | GRCh38 |
| NC_000001.10:g.12010414C>T , CM000663.1:g.12010414C>T | GRCh37 |
| NC_000001.9:g.11933001C>T | NCBI36 |
| NG_008159.1:g.20669C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.303C>T MANE Select | ENSP00000196061.4:p.Ser101= | |
| ENST00000196061.4:c.303C>T | ENSP00000196061.4:p.Ser101= | |
| ENST00000358133.5:n.349C>T | ||
| ENST00000429000.6:c.303C>T | ENSP00000405372.1:p.Ser101= | |
| ENST00000449038.5:c.444C>T | ENSP00000414443.1:p.Ser148= | |
| ENST00000485046.5:n.346C>T | ||
| NM_000302.3:c.303C>T | NP_000293.2:p.Ser101= | |
| NM_001316320.1:c.444C>T | NP_001303249.1:p.Ser148= | |
| XM_011541594.1:c.384C>T | XP_011539896.1:p.Ser128= | |
| XM_024447707.1:c.-364C>T | XP_024303475.1:n.-364C>T | |
| NM_000302.4:c.303C>T MANE Select | NP_000293.2:p.Ser101= | |
| NM_001316320.2:c.444C>T | NP_001303249.1:p.Ser148= |