ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001214 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.8485788T>C , CM000671.2:g.8485788T>C | GRCh38 |
| NC_000009.11:g.8485788T>C , CM000671.1:g.8485788T>C | GRCh37 |
| NC_000009.10:g.8475788T>C | NCBI36 |
| NG_033963.1:g.2131936A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381196.9:c.3029A>G MANE Select | ENSP00000370593.3:p.Gln1010Arg | |
| ENST00000397617.8:c.1802-464A>G | ENSP00000380741.4:n.1802-464A>G | |
| ENST00000651105.1:n.2365A>G | ||
| ENST00000355233.9:c.1823-464A>G | ENSP00000347373.5:n.1823-464A>G | |
| ENST00000356435.9:c.3029A>G | ENSP00000348812.5:p.Gln1010Arg | |
| ENST00000381196.8:c.3029A>G | ENSP00000370593.3:p.Gln1010Arg | |
| ENST00000397606.7:c.1793-464A>G | ENSP00000380731.3:n.1793-464A>G | |
| ENST00000397611.7:c.1814-464A>G | ENSP00000380735.3:n.1814-464A>G | |
| ENST00000397617.7:c.1793-464A>G | ENSP00000380741.3:n.1793-464A>G | |
| ENST00000471274.1:n.1180A>G | ||
| ENST00000486161.5:c.1823-464A>G | ENSP00000417093.1:n.1823-464A>G | |
| ENST00000537002.5:c.1805-461A>G | ENSP00000440515.2:n.1805-461A>G | |
| ENST00000540109.5:c.3029A>G | ENSP00000438164.1:p.Gln1010Arg | |
| NM_001040712.2:c.1814-464A>G | NP_001035802.1:n.1814-464A>G | |
| NM_001171025.1:c.1793-464A>G | NP_001164496.1:n.1793-464A>G | |
| NM_002839.3:c.3029A>G | NP_002830.1:p.Gln1010Arg | |
| NM_130391.3:c.1823-464A>G | NP_569075.2:n.1823-464A>G | |
| NM_130392.3:c.1823-464A>G | NP_569076.2:n.1823-464A>G | |
| NM_130393.3:c.1805-461A>G | NP_569077.2:n.1805-461A>G | |
| XM_006716817.2:c.3029A>G | XP_006716880.1:p.Gln1010Arg | |
| XM_006716819.2:c.3029A>G | XP_006716882.1:p.Gln1010Arg | |
| XM_006716823.1:c.3029A>G | XP_006716886.1:p.Gln1010Arg | |
| XM_006716825.2:c.3029A>G | XP_006716888.1:p.Gln1010Arg | |
| XM_006716827.2:c.2963A>G | XP_006716890.1:p.Gln988Arg | |
| XM_006716832.2:c.1793-464A>G | XP_006716895.1:n.1793-464A>G | |
| XM_006716833.2:c.1823-464A>G | XP_006716896.1:n.1823-464A>G | |
| XM_006716834.2:c.1784-464A>G | XP_006716897.1:n.1784-464A>G | |
| XM_006716835.2:c.1814-464A>G | XP_006716898.1:n.1814-464A>G | |
| XM_006716836.2:c.1823-464A>G | XP_006716899.1:n.1823-464A>G | |
| XM_006716837.2:c.1805-461A>G | XP_006716900.1:n.1805-461A>G | |
| XM_006716838.2:c.1796-464A>G | XP_006716901.1:n.1796-464A>G | |
| XM_006716839.2:c.1784-464A>G | XP_006716902.1:n.1784-464A>G | |
| XM_011517980.1:c.3029A>G | XP_011516282.1:p.Gln1010Arg | |
| XM_011517981.1:c.3029A>G | XP_011516283.1:p.Gln1010Arg | |
| XM_011517982.1:c.3029A>G | XP_011516284.1:p.Gln1010Arg | |
| XM_011517983.1:c.3029A>G | XP_011516285.1:p.Gln1010Arg | |
| XM_011517984.1:c.3020A>G | XP_011516286.1:p.Gln1007Arg | |
| XM_011517985.1:c.3017A>G | XP_011516287.1:p.Gln1006Arg | |
| XM_011517986.1:c.3011A>G | XP_011516288.1:p.Gln1004Arg | |
| XM_011517987.1:c.3002A>G | XP_011516289.1:p.Gln1001Arg | |
| XM_011517988.1:c.3002A>G | XP_011516290.1:p.Gln1001Arg | |
| XM_011517989.1:c.3002A>G | XP_011516291.1:p.Gln1001Arg | |
| XM_011517990.1:c.2990A>G | XP_011516292.1:p.Gln997Arg | |
| XM_011517991.1:c.3029A>G | XP_011516293.1:p.Gln1010Arg | |
| XM_011517992.1:c.3029A>G | XP_011516294.1:p.Gln1010Arg | |
| XM_011517993.1:c.3002A>G | XP_011516295.1:p.Gln1001Arg | |
| XM_011517994.1:c.2963A>G | XP_011516296.1:p.Gln988Arg | |
| XM_011517995.1:c.1823-461A>G | XP_011516297.1:n.1823-461A>G | |
| XM_011517996.1:c.1823-464A>G | XP_011516298.1:n.1823-464A>G | |
| XM_006716817.4:c.3029A>G | XP_006716880.1:p.Gln1010Arg | |
| XM_006716823.3:c.3029A>G | XP_006716886.1:p.Gln1010Arg | |
| XM_006716825.4:c.3029A>G | XP_006716888.1:p.Gln1010Arg | |
| XM_006716827.4:c.2963A>G | XP_006716890.1:p.Gln988Arg | |
| XM_006716832.4:c.1793-464A>G | XP_006716895.1:n.1793-464A>G | |
| XM_006716833.4:c.1823-464A>G | XP_006716896.1:n.1823-464A>G | |
| XM_006716834.4:c.1784-464A>G | XP_006716897.1:n.1784-464A>G | |
| XM_006716835.4:c.1814-464A>G | XP_006716898.1:n.1814-464A>G | |
| XM_006716837.4:c.1805-461A>G | XP_006716900.1:n.1805-461A>G | |
| XM_011517992.3:c.3029A>G | XP_011516294.1:p.Gln1010Arg | |
| XM_017014958.2:c.3029A>G | XP_016870447.1:p.Gln1010Arg | |
| XM_017014959.2:c.3029A>G | XP_016870448.1:p.Gln1010Arg | |
| XM_017014960.2:c.3029A>G | XP_016870449.1:p.Gln1010Arg | |
| XM_017014961.2:c.3029A>G | XP_016870450.1:p.Gln1010Arg | |
| XM_017014962.2:c.3029A>G | XP_016870451.1:p.Gln1010Arg | |
| XM_017014963.2:c.3029A>G | XP_016870452.1:p.Gln1010Arg | |
| XM_017014964.2:c.3029A>G | XP_016870453.1:p.Gln1010Arg | |
| XM_017014965.2:c.3029A>G | XP_016870454.1:p.Gln1010Arg | |
| XM_017014966.2:c.3020A>G | XP_016870455.1:p.Gln1007Arg | |
| XM_017014967.2:c.3017A>G | XP_016870456.1:p.Gln1006Arg | |
| XM_017014968.2:c.3029A>G | XP_016870457.1:p.Gln1010Arg | |
| XM_017014969.2:c.3011A>G | XP_016870458.1:p.Gln1004Arg | |
| XM_017014970.2:c.3029A>G | XP_016870459.1:p.Gln1010Arg | |
| XM_017014971.2:c.3002A>G | XP_016870460.1:p.Gln1001Arg | |
| XM_017014972.2:c.3002A>G | XP_016870461.1:p.Gln1001Arg | |
| XM_017014973.2:c.2999A>G | XP_016870462.1:p.Gln1000Arg | |
| XM_017014974.2:c.3002A>G | XP_016870463.1:p.Gln1001Arg | |
| XM_017014975.2:c.2990A>G | XP_016870464.1:p.Gln997Arg | |
| XM_017014976.2:c.3029A>G | XP_016870465.1:p.Gln1010Arg | |
| XM_017014977.2:c.3002A>G | XP_016870466.1:p.Gln1001Arg | |
| XM_017014978.2:c.3029A>G | XP_016870467.1:p.Gln1010Arg | |
| XM_017014979.2:c.3029A>G | XP_016870468.1:p.Gln1010Arg | |
| XM_017014980.2:c.3002A>G | XP_016870469.1:p.Gln1001Arg | |
| XM_017014981.2:c.2963A>G | XP_016870470.1:p.Gln988Arg | |
| XM_017014982.2:c.1823-461A>G | XP_016870471.1:n.1823-461A>G | |
| XM_017014983.2:c.1823-464A>G | XP_016870472.1:n.1823-464A>G | |
| XM_017014984.2:c.1814-464A>G | XP_016870473.1:n.1814-464A>G | |
| XM_017014985.2:c.1823-461A>G | XP_016870474.1:n.1823-461A>G | |
| XM_017014986.2:c.1823-464A>G | XP_016870475.1:n.1823-464A>G | |
| XM_017014987.2:c.1805-461A>G | XP_016870476.1:n.1805-461A>G | |
| XM_017014988.2:c.1805-464A>G | XP_016870477.1:n.1805-464A>G | |
| XM_017014989.2:c.1823-461A>G | XP_016870478.1:n.1823-461A>G | |
| XM_017014990.2:c.1823-461A>G | XP_016870479.1:n.1823-461A>G | |
| XM_017014991.2:c.1823-464A>G | XP_016870480.1:n.1823-464A>G | |
| XM_017014992.2:c.1814-461A>G | XP_016870481.1:n.1814-461A>G | |
| XM_017014993.2:c.1823-461A>G | XP_016870482.1:n.1823-461A>G | |
| XM_017014994.2:c.1823-464A>G | XP_016870483.1:n.1823-464A>G | |
| XM_017014995.2:c.1814-464A>G | XP_016870484.1:n.1814-464A>G | |
| XM_024447625.1:c.3008A>G | XP_024303393.1:p.Gln1003Arg | |
| XM_024447627.1:c.770A>G | XP_024303395.1:p.Gln257Arg | |
| NM_002839.4:c.3029A>G MANE Select | NP_002830.1:p.Gln1010Arg | |
| NM_001171025.2:c.1793-464A>G | NP_001164496.1:n.1793-464A>G | |
| NM_001377946.1:c.1805-464A>G | NP_001364875.1:n.1805-464A>G | |
| NM_001377947.1:c.1814-461A>G | NP_001364876.1:n.1814-461A>G | |
| NM_001377958.1:c.3029A>G | NP_001364887.1:p.Gln1010Arg | |
| NM_001378058.1:c.3029A>G | NP_001364987.1:p.Gln1010Arg | |
| NM_130391.4:c.1823-464A>G | NP_569075.2:n.1823-464A>G |