gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00090654 (EAS)
Genomes Max Group AF
0.00006823 (EAS)
Exomes Max Group AF
0.00098107 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128611725G>A , CM000671.2:g.128611725G>A | GRCh38 |
| NC_000009.11:g.131374004G>A , CM000671.1:g.131374004G>A | GRCh37 |
| NC_000009.10:g.130413825G>A | NCBI36 |
| NG_027748.1:g.64168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627441.3:c.4821G>A | ENSP00000486547.2:p.Gln1607= | |
| ENST00000630866.2:c.4785G>A | ENSP00000487444.1:p.Gln1595= | |
| ENST00000704202.1:c.4785G>A | ENSP00000515764.1:p.Gln1595= | |
| ENST00000704203.1:c.4821G>A | ENSP00000515765.1:p.Gln1607= | |
| ENST00000704204.1:c.4248G>A | ENSP00000515766.1:p.Gln1416= | |
| ENST00000704206.1:c.2408G>A | ||
| ENST00000704207.1:c.395G>A | ||
| ENST00000706487.1:c.4785G>A | ENSP00000516412.1:p.Gln1595= | |
| ENST00000372739.7:c.4785G>A MANE Select | ENSP00000361824.4:p.Gln1595= | |
| ENST00000637434.1:n.13G>A | ||
| ENST00000358161.9:c.4710G>A | ENSP00000350882.6:p.Gln1570= | |
| ENST00000372731.8:c.4770G>A | ENSP00000361816.4:p.Gln1590= | |
| ENST00000372739.5:c.4785G>A | ENSP00000361824.3:p.Gln1595= | |
| ENST00000629378.2:n.124G>A | ||
| ENST00000630804.2:c.4725G>A | ENSP00000486308.1:p.Gln1575= | |
| ENST00000630866.1:c.4785G>A | ENSP00000487444.1:p.Gln1595= | |
| NM_001130438.2:c.4785G>A | NP_001123910.1:p.Gln1595= | |
| NM_001195532.1:c.4710G>A | NP_001182461.1:p.Gln1570= | |
| NM_003127.3:c.4770G>A | NP_003118.2:p.Gln1590= | |
| XM_006717245.1:c.4821G>A | XP_006717308.1:p.Gln1607= | |
| XM_006717246.1:c.4806G>A | XP_006717309.1:p.Gln1602= | |
| XM_006717247.1:c.4761G>A | XP_006717310.1:p.Gln1587= | |
| XM_006717248.1:c.4821G>A | XP_006717311.1:p.Gln1607= | |
| XM_006717249.1:c.4806G>A | XP_006717312.1:p.Gln1602= | |
| XM_006717250.1:c.4821G>A | XP_006717313.1:p.Gln1607= | |
| XM_006717251.1:c.4725G>A | XP_006717314.1:p.Gln1575= | |
| XM_006717252.1:c.4761G>A | XP_006717315.1:p.Gln1587= | |
| XM_006717253.1:c.4746G>A | XP_006717316.1:p.Gln1582= | |
| XM_006717254.1:c.4785G>A | XP_006717317.1:p.Gln1595= | |
| NM_001363759.1:c.4785G>A | NP_001350688.1:p.Gln1595= | |
| NM_001363765.1:c.4725G>A | NP_001350694.1:p.Gln1575= | |
| XM_006717247.2:c.4761G>A | XP_006717310.1:p.Gln1587= | |
| XM_006717248.2:c.4821G>A | XP_006717311.1:p.Gln1607= | |
| XM_006717251.2:c.4725G>A | XP_006717314.1:p.Gln1575= | |
| XM_006717252.3:c.4761G>A | XP_006717315.1:p.Gln1587= | |
| XM_017015059.1:c.4785G>A | XP_016870548.1:p.Gln1595= | |
| XM_017015060.1:c.4761G>A | XP_016870549.1:p.Gln1587= | |
| NM_001130438.3:c.4785G>A MANE Select | NP_001123910.1:p.Gln1595= | |
| NM_001195532.2:c.4710G>A | NP_001182461.1:p.Gln1570= | |
| NM_001363759.2:c.4785G>A | NP_001350688.1:p.Gln1595= | |
| NM_001363765.2:c.4725G>A | NP_001350694.1:p.Gln1575= | |
| NM_001375310.1:c.4785G>A | NP_001362239.1:p.Gln1595= | |
| NM_001375311.2:c.4785G>A | NP_001362240.1:p.Gln1595= | |
| NM_001375312.2:c.4821G>A | NP_001362241.2:p.Gln1607= | |
| NM_001375313.1:c.4785G>A | NP_001362242.1:p.Gln1595= | |
| NM_001375314.2:c.4725G>A | NP_001362243.1:p.Gln1575= | |
| NM_001375318.1:c.4821G>A | NP_001362247.1:p.Gln1607= | |
| NM_003127.4:c.4770G>A | NP_003118.2:p.Gln1590= |