gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00094345 (NFE)
Genomes Max Group AF
0.00107468 (NFE)
Exomes Max Group AF
0.0009239 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80095388C>T , CM000679.2:g.80095388C>T | GRCh38 |
| NC_000017.10:g.78069187C>T , CM000679.1:g.78069187C>T | GRCh37 |
| NC_000017.9:g.75683782C>T | NCBI36 |
| NG_029761.1:g.63757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.2958C>T MANE Select | ENSP00000380679.4:p.Leu986= | |
| ENST00000397545.8:c.2958C>T | ENSP00000380679.4:p.Leu986= | |
| ENST00000572253.5:n.3209C>T | ||
| ENST00000574799.5:n.2495C>T | ||
| NM_017950.3:c.2958C>T | NP_060420.2:p.Leu986= | |
| XM_011524963.1:c.2868C>T | XP_011523265.1:p.Leu956= | |
| XM_011524964.1:c.1779C>T | XP_011523266.1:p.Leu593= | |
| XM_011524963.3:c.2868C>T | XP_011523265.1:p.Leu956= | |
| XM_011524964.3:c.1779C>T | XP_011523266.1:p.Leu593= | |
| XM_024450821.1:c.2868C>T | XP_024306589.1:p.Leu956= | |
| XR_934495.2:n.3076C>T | ||
| NM_017950.4:c.2958C>T MANE Select | NP_060420.2:p.Leu986= |