gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00276454 (EAS)
Genomes Max Group AF
0.00040391 (AMR)
Exomes Max Group AF
0.00300588 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148094437C>T , CM000667.2:g.148094437C>T | GRCh38 |
| NC_000005.9:g.147474000C>T , CM000667.1:g.147474000C>T | GRCh37 |
| NC_000005.8:g.147454193C>T | NCBI36 |
| NG_009633.1:g.35466C>T , LRG_110:g.35466C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481286.6:n.359C>T | ||
| ENST00000698105.1:n.620C>T | ||
| ENST00000256084.8:c.750C>T MANE Select | ENSP00000256084.7:p.Asp250= | |
| ENST00000256084.7:c.750C>T | ENSP00000256084.7:p.Asp250= | |
| ENST00000359874.7:c.750C>T | ENSP00000352936.3:p.Asp250= | |
| ENST00000398454.5:c.750C>T | ENSP00000381472.1:p.Asp250= | |
| ENST00000476608.1:n.266C>T | ||
| ENST00000476697.7:c.*275C>T | ENSP00000427943.1:n.*275C>T | |
| ENST00000481286.5:n.196C>T | ||
| ENST00000507988.5:n.914C>T | ||
| ENST00000508733.5:c.693C>T | ENSP00000421519.1:p.Asp231= | |
| NM_001127698.1:c.750C>T | NP_001121170.1:p.Asp250= | |
| NM_001127699.1:c.750C>T | NP_001121171.1:p.Asp250= | |
| NM_006846.3:c.750C>T , LRG_110t1:c.750C>T | NP_006837.2:p.Asp250= | |
| XM_011537550.1:c.693C>T | XP_011535852.1:p.Asp231= | |
| XM_011537551.1:c.666C>T | XP_011535853.1:p.Asp222= | |
| XM_011537551.2:c.666C>T | XP_011535853.1:p.Asp222= | |
| NM_001127698.2:c.750C>T | NP_001121170.1:p.Asp250= | |
| NM_001127699.2:c.750C>T | NP_001121171.1:p.Asp250= | |
| NM_006846.4:c.750C>T MANE Select | NP_006837.2:p.Asp250= |