gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008674 (NFE)
Genomes Max Group AF
0.00006804 (NFE)
Exomes Max Group AF
0.00008396 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7895749C>T , CM000667.2:g.7895749C>T | GRCh38 |
| NC_000005.9:g.7895862C>T , CM000667.1:g.7895862C>T | GRCh37 |
| NC_000005.8:g.7948862C>T | NCBI36 |
| NG_008856.1:g.31646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.1573C>T MANE Select | ENSP00000402510.2:p.Arg525Ter | |
| ENST00000264668.6:c.1654C>T | ENSP00000264668.2:p.Arg552Ter | |
| ENST00000440940.6:c.1573C>T | ENSP00000402510.2:p.Arg525Ter | |
| ENST00000510525.5:c.1509C>T | ||
| ENST00000511461.5:c.1486C>T | ||
| ENST00000513439.5:c.*1280C>T | ENSP00000426710.1:n.*1280C>T | |
| NM_002454.2:c.1573C>T | NP_002445.2:p.Arg525Ter | |
| NM_024010.2:c.1654C>T | NP_076915.2:p.Arg552Ter | |
| XM_011514043.1:c.1654C>T | XP_011512345.1:p.Arg552Ter | |
| XM_011514044.1:c.1573C>T | XP_011512346.1:p.Arg525Ter | |
| XR_241702.1:n.1587C>T | ||
| XR_241703.1:n.1580C>T | ||
| XR_925614.1:n.1699C>T | ||
| NM_001364440.1:c.1573C>T | NP_001351369.1:p.Arg525Ter | |
| NM_001364441.1:c.1573C>T | NP_001351370.1:p.Arg525Ter | |
| NM_001364442.1:c.1573C>T | NP_001351371.1:p.Arg525Ter | |
| NM_024010.3:c.1573C>T | NP_076915.3:p.Arg525Ter | |
| NR_134480.1:n.1696C>T | ||
| NR_134481.1:n.1621C>T | ||
| NR_134482.1:n.1556C>T | ||
| NR_157168.1:n.1626C>T | ||
| NR_157169.1:n.1486C>T | ||
| NR_157170.1:n.1652C>T | ||
| NR_157171.1:n.1509C>T | ||
| NR_157172.1:n.1423C>T | ||
| NR_157173.1:n.1663C>T | ||
| NR_157174.1:n.1664C>T | ||
| NR_157175.1:n.1818C>T | ||
| NR_157176.1:n.1981C>T | ||
| NR_157177.1:n.1661C>T | ||
| NR_157178.1:n.1689C>T | ||
| XM_024446063.1:c.1618C>T | XP_024301831.1:p.Arg540Ter | |
| XM_024446064.1:c.1573C>T | XP_024301832.1:p.Arg525Ter | |
| XR_001742071.1:n.1851C>T | ||
| XR_001742072.1:n.1828C>T | ||
| XR_001742074.1:n.1587C>T | ||
| XR_001742075.1:n.1739C>T | ||
| XR_001742076.1:n.1816C>T | ||
| XR_001742077.1:n.1839C>T | ||
| NM_001364440.2:c.1573C>T | NP_001351369.1:p.Arg525Ter | |
| NM_001364441.2:c.1573C>T | NP_001351370.1:p.Arg525Ter | |
| NM_001364442.2:c.1573C>T | NP_001351371.1:p.Arg525Ter | |
| NM_002454.3:c.1573C>T MANE Select | NP_002445.2:p.Arg525Ter | |
| NM_024010.4:c.1573C>T | NP_076915.3:p.Arg525Ter | |
| NR_134480.2:n.1652C>T | ||
| NR_134481.2:n.1577C>T | ||
| NR_134482.2:n.1512C>T | ||
| NR_157168.2:n.1626C>T | ||
| NR_157169.2:n.1486C>T | ||
| NR_157170.2:n.1652C>T | ||
| NR_157171.2:n.1509C>T | ||
| NR_157172.2:n.1423C>T | ||
| NR_157173.2:n.1663C>T | ||
| NR_157174.2:n.1664C>T | ||
| NR_157175.2:n.1818C>T | ||
| NR_157176.2:n.1981C>T | ||
| NR_157177.2:n.1661C>T | ||
| NR_157178.2:n.1689C>T |