gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00204 (NFE)
Genomes Max Group AF
0.00198563 (NFE)
Exomes Max Group AF
0.0020281 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49163696G>A , CM000680.2:g.49163696G>A | GRCh38 |
| NC_000018.9:g.46690066G>A , CM000680.1:g.46690066G>A | GRCh37 |
| NC_000018.8:g.44944064G>A | NCBI36 |
| NG_009239.1:g.302014C>T | |
| NG_009239.2:g.302038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.1717C>T MANE Select | ENSP00000501694.1:p.Leu573= | |
| ENST00000269445.10:c.1552C>T | ENSP00000269445.6:p.Leu518= | |
| ENST00000442713.6:c.982C>T | ENSP00000395942.2:p.Leu328= | |
| NM_017653.3:c.1552C>T | NP_060123.3:p.Leu518= | |
| XM_006722488.2:c.1552C>T | XP_006722551.1:p.Leu518= | |
| XM_006722490.2:c.1552C>T | XP_006722553.1:p.Leu518= | |
| XM_011526036.1:c.1552C>T | XP_011524338.1:p.Leu518= | |
| XM_011526037.1:c.1549C>T | XP_011524339.1:p.Leu517= | |
| XM_011526038.1:c.1549C>T | XP_011524340.1:p.Leu517= | |
| XM_011526039.1:c.1552C>T | XP_011524341.1:p.Leu518= | |
| XM_011526040.1:c.1384C>T | XP_011524342.1:p.Leu462= | |
| XM_011526041.1:c.1552C>T | XP_011524343.1:p.Leu518= | |
| XM_011526042.1:c.1552C>T | XP_011524344.1:p.Leu518= | |
| XM_011526043.1:c.1552C>T | XP_011524345.1:p.Leu518= | |
| NM_001353210.1:c.1549C>T | NP_001340139.1:p.Leu517= | |
| NM_001353211.1:c.1549C>T | NP_001340140.1:p.Leu517= | |
| NM_001353212.1:c.1714C>T | NP_001340141.1:p.Leu572= | |
| NM_001353213.1:c.1714C>T | NP_001340142.1:p.Leu572= | |
| NM_001353214.1:c.1717C>T | NP_001340143.1:p.Leu573= | |
| NM_001353215.1:c.1717C>T | NP_001340144.1:p.Leu573= | |
| NM_001353216.1:c.1552C>T | NP_001340145.1:p.Leu518= | |
| NM_017653.4:c.1552C>T | NP_060123.3:p.Leu518= | |
| XM_006722488.3:c.1552C>T | XP_006722551.1:p.Leu518= | |
| XM_011526036.2:c.1552C>T | XP_011524338.1:p.Leu518= | |
| XM_011526038.2:c.1549C>T | XP_011524340.1:p.Leu517= | |
| XM_011526039.2:c.1552C>T | XP_011524341.1:p.Leu518= | |
| XM_011526041.2:c.1552C>T | XP_011524343.1:p.Leu518= | |
| XM_011526042.2:c.1552C>T | XP_011524344.1:p.Leu518= | |
| XM_017025795.1:c.1546C>T | XP_016881284.1:p.Leu516= | |
| XM_017025796.2:c.1372C>T | XP_016881285.1:p.Leu458= | |
| XM_017025800.2:c.1549C>T | XP_016881289.1:p.Leu517= | |
| XM_017025801.1:c.1546C>T | XP_016881290.1:p.Leu516= | |
| XR_002958177.1:n.1909C>T | ||
| NM_001353210.3:c.1549C>T | NP_001340139.1:p.Leu517= | |
| NM_001353211.3:c.1549C>T | NP_001340140.1:p.Leu517= | |
| NM_001353212.3:c.1714C>T | NP_001340141.1:p.Leu572= | |
| NM_001353213.3:c.1714C>T | NP_001340142.1:p.Leu572= | |
| NM_001353214.3:c.1717C>T MANE Select | NP_001340143.1:p.Leu573= | |
| NM_001353215.3:c.1717C>T | NP_001340144.1:p.Leu573= | |
| NM_001353216.3:c.1552C>T | NP_001340145.1:p.Leu518= | |
| NM_001374428.1:c.1717C>T | NP_001361357.1:p.Leu573= | |
| NM_001374429.1:c.1711C>T | NP_001361358.1:p.Leu571= | |
| NM_001374430.1:c.1717C>T | NP_001361359.1:p.Leu573= | |
| NM_001374431.1:c.1717C>T | NP_001361360.1:p.Leu573= | |
| NM_001374432.1:c.1591C>T | NP_001361361.1:p.Leu531= | |
| NM_001374433.1:c.1552C>T | NP_001361362.1:p.Leu518= | |
| NM_001374434.1:c.1552C>T | NP_001361363.1:p.Leu518= | |
| NM_001374435.1:c.1549C>T | NP_001361364.1:p.Leu517= | |
| NM_001374436.1:c.1426C>T | NP_001361365.1:p.Leu476= | |
| NM_001374437.1:c.1369C>T | NP_001361366.1:p.Leu457= | |
| NM_001374438.1:c.1549C>T | NP_001361367.1:p.Leu517= | |
| NM_001374439.1:c.1546C>T | NP_001361368.1:p.Leu516= | |
| NM_001374440.1:c.1324C>T | NP_001361369.1:p.Leu442= | |
| NM_001374441.1:c.1147C>T | NP_001361370.1:p.Leu383= | |
| NM_001374442.1:c.982C>T | NP_001361371.1:p.Leu328= | |
| NM_001374443.1:c.979C>T | NP_001361372.1:p.Leu327= | |
| NM_001374444.1:c.982C>T | NP_001361373.1:p.Leu328= | |
| NM_017653.6:c.1552C>T | NP_060123.3:p.Leu518= |