Linked Data
ClinVar Variation Id:
286950
ClinVar RCV Id:
RCV000351313
dbSNP Id:
rs371292546
ExAC:
9:32973572 C / T
gnomAD v2:
9-32973572-C-T
gnomAD v3:
9-32973574-C-T
gnomAD v4:
9-32973574-C-T
COSMIC:
COSM1598250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32973574C>T , CM000671.2:g.32973574C>T | GRCh38 |
| NC_000009.11:g.32973572C>T , CM000671.1:g.32973572C>T | GRCh37 |
| NC_000009.10:g.32963572C>T | NCBI36 |
| NG_012821.1:g.33055G>A | |
| NG_012821.2:g.56558G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309615.8:c.791G>A | ENSP00000311547.4:p.Arg264His | |
| ENST00000379817.7:c.953G>A MANE Select | ENSP00000369145.2:p.Arg318His | |
| ENST00000379819.6:c.953G>A | ENSP00000369147.2:p.Arg318His | |
| ENST00000379825.7:c.*110G>A | ENSP00000369153.3:n.*110G>A | |
| ENST00000397172.8:c.737G>A | ENSP00000380357.4:p.Arg246His | |
| ENST00000436040.7:c.791G>A | ENSP00000400806.4:p.Arg264His | |
| ENST00000460940.6:c.*571G>A | ENSP00000418311.1:n.*571G>A | |
| ENST00000463596.6:c.953G>A | ENSP00000419846.1:p.Arg318His | |
| ENST00000465003.6:c.*683G>A | ENSP00000419430.2:n.*683G>A | |
| ENST00000467331.6:c.*798G>A | ENSP00000418733.1:n.*798G>A | |
| ENST00000468275.6:c.*110G>A | ENSP00000420263.2:n.*110G>A | |
| ENST00000472896.6:c.*747G>A | ENSP00000417804.2:n.*747G>A | |
| ENST00000474658.7:c.*396G>A | ENSP00000417750.3:n.*396G>A | |
| ENST00000476858.6:c.791G>A | ENSP00000419042.2:p.Arg264His | |
| ENST00000477119.2:c.836G>A | ENSP00000417649.2:p.Arg279His | |
| ENST00000479656.6:c.*798G>A | ENSP00000420071.1:n.*798G>A | |
| ENST00000482687.6:c.*571G>A | ENSP00000419289.2:n.*571G>A | |
| ENST00000483148.6:c.*580G>A | ENSP00000419723.1:n.*580G>A | |
| ENST00000485479.6:c.*674G>A | ENSP00000418144.1:n.*674G>A | |
| ENST00000495360.6:c.*696G>A | ENSP00000419623.2:n.*696G>A | |
| ENST00000671774.1:n.982G>A | ||
| ENST00000671912.1:c.*147G>A | ENSP00000500871.1:n.*147G>A | |
| ENST00000672152.1:n.923G>A | ||
| ENST00000672244.1:c.*147G>A | ENSP00000499875.1:n.*147G>A | |
| ENST00000672281.1:n.1150G>A | ||
| ENST00000672286.1:n.1214G>A | ||
| ENST00000672438.1:c.689G>A | ENSP00000499997.1:p.Arg230His | |
| ENST00000672476.1:n.1145G>A | ||
| ENST00000672493.1:n.2297G>A | ||
| ENST00000672519.1:c.*388+12397G>A | ENSP00000500320.1:n.*388+12397G>A | |
| ENST00000672535.1:c.*1488G>A | ENSP00000499872.1:n.*1488G>A | |
| ENST00000672615.1:n.1030G>A | ||
| ENST00000672846.1:c.*683G>A | ENSP00000500396.1:n.*683G>A | |
| ENST00000673171.1:n.803G>A | ||
| ENST00000673181.1:n.1523G>A | ||
| ENST00000673211.1:n.1035G>A | ||
| ENST00000673248.1:c.689G>A | ENSP00000500601.1:p.Arg230His | |
| ENST00000673333.1:n.1231G>A | ||
| ENST00000673360.1:c.*396G>A | ENSP00000500360.1:n.*396G>A | |
| ENST00000673416.1:c.689G>A | ENSP00000500738.1:p.Arg230His | |
| ENST00000673485.1:n.1150G>A | ||
| ENST00000673487.1:c.*683G>A | ENSP00000500943.1:n.*683G>A | |
| ENST00000673598.1:c.431G>A | ENSP00000499991.1:p.Arg144His | |
| ENST00000309615.7:c.791G>A | ENSP00000311547.4:p.Arg264His | |
| ENST00000379813.7:c.935G>A | ENSP00000369141.4:p.Arg312His | |
| ENST00000379817.6:c.953G>A | ENSP00000369145.2:p.Arg318His | |
| ENST00000379819.5:c.995G>A | ENSP00000369147.1:p.Arg332His | |
| ENST00000379825.6:c.*110G>A | ENSP00000369153.2:n.*110G>A | |
| ENST00000397172.7:c.779G>A | ENSP00000380357.3:p.Arg260His | |
| ENST00000436040.6:c.953G>A | ENSP00000400806.3:p.Arg318His | |
| ENST00000460940.5:c.*571G>A | ENSP00000418311.1:n.*571G>A | |
| ENST00000463596.5:c.953G>A | ENSP00000419846.1:p.Arg318His | |
| ENST00000465003.5:c.*580G>A | ENSP00000419430.1:n.*580G>A | |
| ENST00000467331.5:c.*798G>A | ENSP00000418733.1:n.*798G>A | |
| ENST00000468275.5:c.953G>A | ENSP00000420263.1:p.Arg318His | |
| ENST00000472896.5:c.*456G>A | ENSP00000417804.1:n.*456G>A | |
| ENST00000474658.6:c.620G>A | ||
| ENST00000476858.5:c.833G>A | ENSP00000419042.1:p.Arg278His | |
| ENST00000479656.5:c.*798G>A | ENSP00000420071.1:n.*798G>A | |
| ENST00000482687.5:c.*147G>A | ENSP00000419289.1:n.*147G>A | |
| ENST00000483148.5:c.*353G>A | ENSP00000419723.1:n.*353G>A | |
| ENST00000485479.5:c.*683G>A | ENSP00000418144.1:n.*683G>A | |
| ENST00000494649.5:c.*798G>A | ENSP00000417634.1:n.*798G>A | |
| ENST00000495360.5:c.*683G>A | ENSP00000419623.1:n.*683G>A | |
| NM_001195248.1:c.995G>A | NP_001182177.1:p.Arg332His | |
| NM_001195249.1:c.953G>A | NP_001182178.1:p.Arg318His | |
| NM_001195250.1:c.833G>A | NP_001182179.1:p.Arg278His | |
| NM_001195251.1:c.*110G>A | NP_001182180.1:n.*110G>A | |
| NM_001195252.1:c.779G>A | NP_001182181.1:p.Arg260His | |
| NM_001195254.1:c.791G>A | NP_001182183.1:p.Arg264His | |
| NM_175069.2:c.*110G>A | NP_778239.1:n.*110G>A | |
| NM_175073.2:c.953G>A | NP_778243.1:p.Arg318His | |
| NR_036576.1:n.1027G>A | ||
| NR_036577.1:n.917G>A | ||
| NR_036578.1:n.1049G>A | ||
| NR_036579.1:n.1196G>A | ||
| XM_006716791.2:c.953G>A | XP_006716854.1:p.Arg318His | |
| XM_006716792.2:c.689G>A | XP_006716855.1:p.Arg230His | |
| XM_011517936.1:c.689G>A | XP_011516238.1:p.Arg230His | |
| XM_011517937.1:c.689G>A | XP_011516239.1:p.Arg230His | |
| XM_011517938.1:c.689G>A | XP_011516240.1:p.Arg230His | |
| XM_011517939.1:c.689G>A | XP_011516241.1:p.Arg230His | |
| XR_428423.2:n.805G>A | ||
| XR_929276.1:n.1404G>A | ||
| XR_929277.1:n.1427G>A | ||
| XM_006716791.4:c.953G>A | XP_006716854.1:p.Arg318His | |
| XM_006716792.3:c.689G>A | XP_006716855.1:p.Arg230His | |
| XM_011517938.2:c.689G>A | XP_011516240.1:p.Arg230His | |
| XM_011517939.3:c.689G>A | XP_011516241.1:p.Arg230His | |
| XM_017014831.1:c.813-6801G>A | XP_016870320.1:n.813-6801G>A | |
| XM_017014832.1:c.813-6801G>A | XP_016870321.1:n.813-6801G>A | |
| XM_017014833.2:c.813-6801G>A | XP_016870322.1:n.813-6801G>A | |
| XM_017014836.2:c.813-6801G>A | XP_016870325.1:n.813-6801G>A | |
| XM_017014837.2:c.791G>A | XP_016870326.1:p.Arg264His | |
| XM_017014838.1:c.*110G>A | XP_016870327.1:n.*110G>A | |
| XM_024447575.1:c.953G>A | XP_024303343.1:p.Arg318His | |
| XM_024447576.1:c.953G>A | XP_024303344.1:p.Arg318His | |
| XM_024447577.1:c.953G>A | XP_024303345.1:p.Arg318His | |
| XM_024447578.1:c.813-6801G>A | XP_024303346.1:n.813-6801G>A | |
| XM_024447579.1:c.*110G>A | XP_024303347.1:n.*110G>A | |
| XM_024447580.1:c.791G>A | XP_024303348.1:p.Arg264His | |
| XM_024447581.1:c.689G>A | XP_024303349.1:p.Arg230His | |
| XM_024447582.1:c.689G>A | XP_024303350.1:p.Arg230His | |
| XR_001746325.2:n.1463G>A | ||
| XR_001746326.2:n.1412G>A | ||
| XR_428423.3:n.805G>A | ||
| XR_929276.3:n.1404G>A | ||
| XR_929277.3:n.1427G>A | ||
| NM_001195248.2:c.953G>A MANE Select | NP_001182177.2:p.Arg318His | |
| NM_001195250.2:c.791G>A | NP_001182179.2:p.Arg264His | |
| NM_001195252.2:c.737G>A | NP_001182181.2:p.Arg246His | |
| NM_001368995.1:c.953G>A | NP_001355924.1:p.Arg318His | |
| NM_001368996.1:c.953G>A | NP_001355925.1:p.Arg318His | |
| NM_001368997.1:c.953G>A | NP_001355926.1:p.Arg318His | |
| NM_001368998.1:c.953G>A | NP_001355927.1:p.Arg318His | |
| NM_001368999.1:c.*110G>A | NP_001355928.1:n.*110G>A | |
| NM_001369000.1:c.791G>A | NP_001355929.1:p.Arg264His | |
| NM_001369001.1:c.791G>A | NP_001355930.1:p.Arg264His | |
| NM_001369002.1:c.689G>A | NP_001355931.1:p.Arg230His | |
| NM_001369003.1:c.689G>A | NP_001355932.1:p.Arg230His | |
| NM_001369004.1:c.689G>A | NP_001355933.1:p.Arg230His | |
| NM_001369005.1:c.689G>A | NP_001355934.1:p.Arg230His | |
| NM_001369006.1:c.*110G>A | NP_001355935.1:n.*110G>A | |
| NM_001370669.1:c.689G>A | NP_001357598.1:p.Arg230His | |
| NM_001370670.1:c.689G>A | NP_001357599.1:p.Arg230His | |
| NM_001370673.1:c.689G>A | NP_001357602.1:p.Arg230His | |
| NM_175069.3:c.*110G>A | NP_778239.2:n.*110G>A | |
| NR_160920.1:n.792G>A | ||
| NR_160921.1:n.923G>A | ||
| NR_160922.1:n.1154G>A | ||
| NR_160923.1:n.958G>A | ||
| NR_160924.1:n.963G>A | ||
| NR_160925.1:n.1159G>A | ||
| NR_160926.1:n.949G>A | ||
| NR_160927.1:n.1042G>A | ||
| NR_160928.1:n.968G>A | ||
| NR_160929.1:n.846G>A | ||
| NR_160930.1:n.899G>A | ||
| NR_160931.1:n.1138G>A | ||
| NM_001195249.2:c.953G>A | NP_001182178.1:p.Arg318His | |
| NM_001195251.2:c.*110G>A | NP_001182180.1:n.*110G>A | |
| NM_001195254.2:c.791G>A | NP_001182183.1:p.Arg264His | |
| NM_175073.3:c.953G>A | NP_778243.1:p.Arg318His | |
| NR_036577.2:n.904G>A |