ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.8436600C>T , CM000671.2:g.8436600C>T | GRCh38 |
| NC_000009.11:g.8436600C>T , CM000671.1:g.8436600C>T | GRCh37 |
| NC_000009.10:g.8426600C>T | NCBI36 |
| NG_033963.1:g.2181124G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381196.9:c.4078G>A MANE Select | ENSP00000370593.3:p.Glu1360Lys | |
| ENST00000397617.8:c.2866G>A | ENSP00000380741.4:p.Glu956Lys | |
| ENST00000651105.1:n.3456G>A | ||
| ENST00000355233.9:c.2860G>A | ENSP00000347373.5:p.Glu954Lys | |
| ENST00000356435.9:c.4078G>A | ENSP00000348812.5:p.Glu1360Lys | |
| ENST00000381196.8:c.4078G>A | ENSP00000370593.3:p.Glu1360Lys | |
| ENST00000397606.7:c.2857G>A | ENSP00000380731.3:p.Glu953Lys | |
| ENST00000397611.7:c.2848G>A | ENSP00000380735.3:p.Glu950Lys | |
| ENST00000397617.7:c.2857G>A | ENSP00000380741.3:p.Glu953Lys | |
| ENST00000486161.5:c.2857G>A | ENSP00000417093.1:p.Glu953Lys | |
| ENST00000537002.5:c.2830G>A | ENSP00000440515.2:p.Glu944Lys | |
| ENST00000540109.5:c.4078G>A | ENSP00000438164.1:p.Glu1360Lys | |
| NM_001040712.2:c.2848G>A | NP_001035802.1:p.Glu950Lys | |
| NM_001171025.1:c.2857G>A | NP_001164496.1:p.Glu953Lys | |
| NM_002839.3:c.4078G>A | NP_002830.1:p.Glu1360Lys | |
| NM_130391.3:c.2857G>A | NP_569075.2:p.Glu953Lys | |
| NM_130392.3:c.2860G>A | NP_569076.2:p.Glu954Lys | |
| NM_130393.3:c.2830G>A | NP_569077.2:p.Glu944Lys | |
| XM_006716817.2:c.4129G>A | XP_006716880.1:p.Glu1377Lys | |
| XM_006716819.2:c.4123G>A | XP_006716882.1:p.Glu1375Lys | |
| XM_006716823.1:c.4081G>A | XP_006716886.1:p.Glu1361Lys | |
| XM_006716825.2:c.4078G>A | XP_006716888.1:p.Glu1360Lys | |
| XM_006716827.2:c.4021G>A | XP_006716890.1:p.Glu1341Lys | |
| XM_006716832.2:c.2857G>A | XP_006716895.1:p.Glu953Lys | |
| XM_006716833.2:c.2857G>A | XP_006716896.1:p.Glu953Lys | |
| XM_006716834.2:c.2857G>A | XP_006716897.1:p.Glu953Lys | |
| XM_006716835.2:c.2848G>A | XP_006716898.1:p.Glu950Lys | |
| XM_006716836.2:c.2845G>A | XP_006716899.1:p.Glu949Lys | |
| XM_006716837.2:c.2830G>A | XP_006716900.1:p.Glu944Lys | |
| XM_006716838.2:c.2827G>A | XP_006716901.1:p.Glu943Lys | |
| XM_006716839.2:c.2815G>A | XP_006716902.1:p.Glu939Lys | |
| XM_011517980.1:c.4135G>A | XP_011516282.1:p.Glu1379Lys | |
| XM_011517981.1:c.4135G>A | XP_011516283.1:p.Glu1379Lys | |
| XM_011517982.1:c.4132G>A | XP_011516284.1:p.Glu1378Lys | |
| XM_011517983.1:c.4132G>A | XP_011516285.1:p.Glu1378Lys | |
| XM_011517984.1:c.4126G>A | XP_011516286.1:p.Glu1376Lys | |
| XM_011517985.1:c.4123G>A | XP_011516287.1:p.Glu1375Lys | |
| XM_011517986.1:c.4117G>A | XP_011516288.1:p.Glu1373Lys | |
| XM_011517987.1:c.4108G>A | XP_011516289.1:p.Glu1370Lys | |
| XM_011517988.1:c.4108G>A | XP_011516290.1:p.Glu1370Lys | |
| XM_011517989.1:c.4105G>A | XP_011516291.1:p.Glu1369Lys | |
| XM_011517990.1:c.4096G>A | XP_011516292.1:p.Glu1366Lys | |
| XM_011517991.1:c.4093G>A | XP_011516293.1:p.Glu1365Lys | |
| XM_011517992.1:c.4078G>A | XP_011516294.1:p.Glu1360Lys | |
| XM_011517993.1:c.4051G>A | XP_011516295.1:p.Glu1351Lys | |
| XM_011517994.1:c.4012G>A | XP_011516296.1:p.Glu1338Lys | |
| XM_011517995.1:c.2902G>A | XP_011516297.1:p.Glu968Lys | |
| XM_011517996.1:c.2899G>A | XP_011516298.1:p.Glu967Lys | |
| XM_006716817.4:c.4129G>A | XP_006716880.1:p.Glu1377Lys | |
| XM_006716823.3:c.4081G>A | XP_006716886.1:p.Glu1361Lys | |
| XM_006716825.4:c.4078G>A | XP_006716888.1:p.Glu1360Lys | |
| XM_006716827.4:c.4021G>A | XP_006716890.1:p.Glu1341Lys | |
| XM_006716832.4:c.2857G>A | XP_006716895.1:p.Glu953Lys | |
| XM_006716833.4:c.2857G>A | XP_006716896.1:p.Glu953Lys | |
| XM_006716834.4:c.2857G>A | XP_006716897.1:p.Glu953Lys | |
| XM_006716835.4:c.2848G>A | XP_006716898.1:p.Glu950Lys | |
| XM_006716837.4:c.2830G>A | XP_006716900.1:p.Glu944Lys | |
| XM_011517992.3:c.4078G>A | XP_011516294.1:p.Glu1360Lys | |
| XM_017014958.2:c.4138G>A | XP_016870447.1:p.Glu1380Lys | |
| XM_017014959.2:c.4138G>A | XP_016870448.1:p.Glu1380Lys | |
| XM_017014960.2:c.4138G>A | XP_016870449.1:p.Glu1380Lys | |
| XM_017014961.2:c.4138G>A | XP_016870450.1:p.Glu1380Lys | |
| XM_017014962.2:c.4138G>A | XP_016870451.1:p.Glu1380Lys | |
| XM_017014963.2:c.4135G>A | XP_016870452.1:p.Glu1379Lys | |
| XM_017014964.2:c.4135G>A | XP_016870453.1:p.Glu1379Lys | |
| XM_017014965.2:c.4135G>A | XP_016870454.1:p.Glu1379Lys | |
| XM_017014966.2:c.4129G>A | XP_016870455.1:p.Glu1377Lys | |
| XM_017014967.2:c.4126G>A | XP_016870456.1:p.Glu1376Lys | |
| XM_017014968.2:c.4123G>A | XP_016870457.1:p.Glu1375Lys | |
| XM_017014969.2:c.4120G>A | XP_016870458.1:p.Glu1374Lys | |
| XM_017014970.2:c.4120G>A | XP_016870459.1:p.Glu1374Lys | |
| XM_017014971.2:c.4111G>A | XP_016870460.1:p.Glu1371Lys | |
| XM_017014972.2:c.4111G>A | XP_016870461.1:p.Glu1371Lys | |
| XM_017014973.2:c.4108G>A | XP_016870462.1:p.Glu1370Lys | |
| XM_017014974.2:c.4108G>A | XP_016870463.1:p.Glu1370Lys | |
| XM_017014975.2:c.4099G>A | XP_016870464.1:p.Glu1367Lys | |
| XM_017014976.2:c.4096G>A | XP_016870465.1:p.Glu1366Lys | |
| XM_017014977.2:c.4096G>A | XP_016870466.1:p.Glu1366Lys | |
| XM_017014978.2:c.4093G>A | XP_016870467.1:p.Glu1365Lys | |
| XM_017014979.2:c.4090G>A | XP_016870468.1:p.Glu1364Lys | |
| XM_017014980.2:c.4051G>A | XP_016870469.1:p.Glu1351Lys | |
| XM_017014981.2:c.4012G>A | XP_016870470.1:p.Glu1338Lys | |
| XM_017014982.2:c.2905G>A | XP_016870471.1:p.Glu969Lys | |
| XM_017014983.2:c.2902G>A | XP_016870472.1:p.Glu968Lys | |
| XM_017014984.2:c.2893G>A | XP_016870473.1:p.Glu965Lys | |
| XM_017014985.2:c.2890G>A | XP_016870474.1:p.Glu964Lys | |
| XM_017014986.2:c.2887G>A | XP_016870475.1:p.Glu963Lys | |
| XM_017014987.2:c.2872G>A | XP_016870476.1:p.Glu958Lys | |
| XM_017014988.2:c.2869G>A | XP_016870477.1:p.Glu957Lys | |
| XM_017014989.2:c.2863G>A | XP_016870478.1:p.Glu955Lys | |
| XM_017014990.2:c.2860G>A | XP_016870479.1:p.Glu954Lys | |
| XM_017014991.2:c.2860G>A | XP_016870480.1:p.Glu954Lys | |
| XM_017014992.2:c.2851G>A | XP_016870481.1:p.Glu951Lys | |
| XM_017014993.2:c.2848G>A | XP_016870482.1:p.Glu950Lys | |
| XM_017014994.2:c.2845G>A | XP_016870483.1:p.Glu949Lys | |
| XM_017014995.2:c.2845G>A | XP_016870484.1:p.Glu949Lys | |
| XM_024447625.1:c.4117G>A | XP_024303393.1:p.Glu1373Lys | |
| XM_024447627.1:c.1876G>A | XP_024303395.1:p.Glu626Lys | |
| NM_002839.4:c.4078G>A MANE Select | NP_002830.1:p.Glu1360Lys | |
| NM_001171025.2:c.2857G>A | NP_001164496.1:p.Glu953Lys | |
| NM_001377946.1:c.2869G>A | NP_001364875.1:p.Glu957Lys | |
| NM_001377947.1:c.2839G>A | NP_001364876.1:p.Glu947Lys | |
| NM_001377958.1:c.4138G>A | NP_001364887.1:p.Glu1380Lys | |
| NM_001378058.1:c.4093G>A | NP_001364987.1:p.Glu1365Lys | |
| NM_130391.4:c.2857G>A | NP_569075.2:p.Glu953Lys |