gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043658 (SAS)
Genomes Max Group AF
0.00007296 (SAS)
Exomes Max Group AF
0.00044082 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373965C>T , CM000664.2:g.47373965C>T | GRCh38 |
| NC_000002.11:g.47601104C>T , CM000664.1:g.47601104C>T | GRCh37 |
| NC_000002.10:g.47454608C>T | NCBI36 |
| NG_012352.2:g.33803C>T , LRG_215:g.33803C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.342C>T MANE Select | ENSP00000263735.4:p.Ser114= | |
| ENST00000263735.8:c.342C>T | ENSP00000263735.4:p.Ser114= | |
| ENST00000405271.5:c.426C>T | ENSP00000385476.1:p.Ser142= | |
| ENST00000419334.1:c.570C>T | ENSP00000389028.1:p.Ser190= | |
| ENST00000456133.5:c.426C>T | ENSP00000410675.1:p.Ser142= | |
| ENST00000474691.1:n.610C>T | ||
| ENST00000490733.1:n.191C>T | ||
| NM_002354.2:c.342C>T , LRG_215t1:c.342C>T | NP_002345.2:p.Ser114= | |
| NM_002354.3:c.342C>T MANE Select | NP_002345.2:p.Ser114= |