gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009194 (SAS)
Exomes Max Group AF
0.00009791 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158684590C>T , CM000665.2:g.158684590C>T | GRCh38 |
| NC_000003.11:g.158402379C>T , CM000665.1:g.158402379C>T | GRCh37 |
| NC_000003.10:g.159885073C>T | NCBI36 |
| NG_008441.1:g.45063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.1831C>T MANE Select | ENSP00000419038.1:p.Leu611= | |
| ENST00000264263.9:c.1888C>T | ENSP00000264263.5:p.Leu630= | |
| ENST00000477721.1:n.237C>T | ||
| ENST00000478254.5:c.*471C>T | ENSP00000417225.1:n.*471C>T | |
| ENST00000481468.1:n.118C>T | ||
| ENST00000486715.5:c.1831C>T | ENSP00000419038.1:p.Leu611= | |
| NM_001308164.1:c.1888C>T | NP_001295093.1:p.Leu630= | |
| NM_024996.5:c.1831C>T | NP_079272.4:p.Leu611= | |
| XM_006713795.1:c.1714C>T | XP_006713858.1:p.Leu572= | |
| XM_006713795.2:c.1714C>T | XP_006713858.1:p.Leu572= | |
| NM_001374355.1:c.1750C>T | NP_001361284.1:p.Leu584= | |
| NM_001374356.1:c.1714C>T | NP_001361285.1:p.Leu572= | |
| NM_001374357.1:c.1606C>T | NP_001361286.1:p.Leu536= | |
| NM_001374358.1:c.1372C>T | NP_001361287.1:p.Leu458= | |
| NM_001374359.1:c.1264C>T | NP_001361288.1:p.Leu422= | |
| NM_001374360.1:c.1264C>T | NP_001361289.1:p.Leu422= | |
| NM_001374361.1:c.1147C>T | NP_001361290.1:p.Leu383= | |
| NM_024996.7:c.1831C>T MANE Select | NP_079272.4:p.Leu611= | |
| NR_164499.1:n.1854C>T | ||
| NR_164500.1:n.1872+2433C>T | ||
| NR_164501.1:n.1417+2433C>T | ||
| NR_164502.1:n.1818C>T | ||
| NM_001308164.2:c.1888C>T | NP_001295093.1:p.Leu630= |