ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00048106 (EAS)
Genomes Max Group AF
0.00076819 (EAS)
Exomes Max Group AF
0.00037506 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16851373C>T , CM000672.2:g.16851373C>T | GRCh38 |
| NC_000010.10:g.16893372C>T , CM000672.1:g.16893372C>T | GRCh37 |
| NC_000010.9:g.16933378C>T | NCBI36 |
| NG_008967.1:g.283445G>A , LRG_540:g.283445G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.9525G>A MANE Select | ENSP00000367064.4:p.Ser3175= | |
| ENST00000649135.1:n.120G>A | ||
| ENST00000377833.8:c.9525G>A | ENSP00000367064.4:p.Ser3175= | |
| NM_001081.3:c.9525G>A , LRG_540t1:c.9525G>A | NP_001072.2:p.Ser3175= | |
| XM_011519709.1:c.5511G>A | XP_011518011.1:p.Ser1837= | |
| XM_011519710.1:c.5487G>A | XP_011518012.1:p.Ser1829= | |
| XM_011519711.1:c.5367G>A | XP_011518013.1:p.Ser1789= | |
| XM_011519709.2:c.5511G>A | XP_011518011.1:p.Ser1837= | |
| XM_011519710.2:c.5487G>A | XP_011518012.1:p.Ser1829= | |
| XM_011519711.3:c.5367G>A | XP_011518013.1:p.Ser1789= | |
| NM_001081.4:c.9525G>A MANE Select | NP_001072.2:p.Ser3175= |