Linked Data
ClinVar Variation Id:
870837
ClinVar RCV Id:
RCV001090493
dbSNP Id:
rs770579215
ExAC:
9:32984840 G / A
gnomAD v2:
9-32984840-G-A
gnomAD v3:
9-32984842-G-A
gnomAD v4:
9-32984842-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32984842G>A , CM000671.2:g.32984842G>A | GRCh38 |
| NC_000009.11:g.32984840G>A , CM000671.1:g.32984840G>A | GRCh37 |
| NC_000009.10:g.32974840G>A | NCBI36 |
| NG_012821.1:g.21787C>T | |
| NG_012821.2:g.45290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309615.8:c.397C>T | ENSP00000311547.4:p.Gln133Ter | |
| ENST00000379817.7:c.559C>T MANE Select | ENSP00000369145.2:p.Gln187Ter | |
| ENST00000379819.6:c.559C>T | ENSP00000369147.2:p.Gln187Ter | |
| ENST00000379825.7:c.559C>T | ENSP00000369153.3:p.Gln187Ter | |
| ENST00000397172.8:c.343C>T | ENSP00000380357.4:p.Gln115Ter | |
| ENST00000436040.7:c.397C>T | ENSP00000400806.4:p.Gln133Ter | |
| ENST00000460940.6:c.*388+1129C>T | ENSP00000418311.1:n.*388+1129C>T | |
| ENST00000463596.6:c.559C>T | ENSP00000419846.1:p.Gln187Ter | |
| ENST00000464632.6:c.*289C>T | ENSP00000418069.2:n.*289C>T | |
| ENST00000465003.6:c.*289C>T | ENSP00000419430.2:n.*289C>T | |
| ENST00000467331.6:c.*404C>T | ENSP00000418733.1:n.*404C>T | |
| ENST00000468275.6:c.559C>T | ENSP00000420263.2:p.Gln187Ter | |
| ENST00000472896.6:c.*353C>T | ENSP00000417804.2:n.*353C>T | |
| ENST00000474658.7:c.*2C>T | ENSP00000417750.3:n.*2C>T | |
| ENST00000476858.6:c.397C>T | ENSP00000419042.2:p.Gln133Ter | |
| ENST00000477119.2:c.442C>T | ENSP00000417649.2:p.Gln148Ter | |
| ENST00000478279.6:c.*186C>T | ENSP00000419597.2:n.*186C>T | |
| ENST00000479656.6:c.*404C>T | ENSP00000420071.1:n.*404C>T | |
| ENST00000480031.6:c.*353C>T | ENSP00000417684.1:n.*353C>T | |
| ENST00000482687.6:c.*388+1129C>T | ENSP00000419289.2:n.*388+1129C>T | |
| ENST00000483148.6:c.*186C>T | ENSP00000419723.1:n.*186C>T | |
| ENST00000485479.6:c.*280C>T | ENSP00000418144.1:n.*280C>T | |
| ENST00000495360.6:c.*302C>T | ENSP00000419623.2:n.*302C>T | |
| ENST00000671774.1:n.157C>T | ||
| ENST00000671912.1:c.279+1129C>T | ENSP00000500871.1:n.279+1129C>T | |
| ENST00000672152.1:n.740+1129C>T | ||
| ENST00000672244.1:c.381+1129C>T | ENSP00000499875.1:n.381+1129C>T | |
| ENST00000672281.1:n.756C>T | ||
| ENST00000672286.1:n.820C>T | ||
| ENST00000672438.1:c.295C>T | ENSP00000499997.1:p.Gln99Ter | |
| ENST00000672476.1:n.751C>T | ||
| ENST00000672493.1:n.1098C>T | ||
| ENST00000672519.1:c.*388+1129C>T | ENSP00000500320.1:n.*388+1129C>T | |
| ENST00000672535.1:c.*289C>T | ENSP00000499872.1:n.*289C>T | |
| ENST00000672615.1:n.636C>T | ||
| ENST00000672846.1:c.*289C>T | ENSP00000500396.1:n.*289C>T | |
| ENST00000673114.1:n.423C>T | ||
| ENST00000673171.1:n.620+1129C>T | ||
| ENST00000673211.1:n.641C>T | ||
| ENST00000673248.1:c.295C>T | ENSP00000500601.1:p.Gln99Ter | |
| ENST00000673333.1:n.837C>T | ||
| ENST00000673360.1:c.*2C>T | ENSP00000500360.1:n.*2C>T | |
| ENST00000673416.1:c.295C>T | ENSP00000500738.1:p.Gln99Ter | |
| ENST00000673485.1:n.756C>T | ||
| ENST00000673487.1:c.*289C>T | ENSP00000500943.1:n.*289C>T | |
| ENST00000673598.1:c.37C>T | ENSP00000499991.1:p.Gln13Ter | |
| ENST00000309615.7:c.397C>T | ENSP00000311547.4:p.Gln133Ter | |
| ENST00000379812.9:c.385C>T | ENSP00000369140.5:p.Gln129Ter | |
| ENST00000379813.7:c.541C>T | ENSP00000369141.4:p.Gln181Ter | |
| ENST00000379817.6:c.559C>T | ENSP00000369145.2:p.Gln187Ter | |
| ENST00000379819.5:c.601C>T | ENSP00000369147.1:p.Gln201Ter | |
| ENST00000379825.6:c.601C>T | ENSP00000369153.2:p.Gln201Ter | |
| ENST00000397172.7:c.385C>T | ENSP00000380357.3:p.Gln129Ter | |
| ENST00000436040.6:c.559C>T | ENSP00000400806.3:p.Gln187Ter | |
| ENST00000460940.5:c.*388+1129C>T | ENSP00000418311.1:n.*388+1129C>T | |
| ENST00000463596.5:c.559C>T | ENSP00000419846.1:p.Gln187Ter | |
| ENST00000464632.5:c.*289C>T | ENSP00000418069.1:n.*289C>T | |
| ENST00000465003.5:c.*186C>T | ENSP00000419430.1:n.*186C>T | |
| ENST00000467331.5:c.*404C>T | ENSP00000418733.1:n.*404C>T | |
| ENST00000468275.5:c.559C>T | ENSP00000420263.1:p.Gln187Ter | |
| ENST00000472896.5:c.*273+1129C>T | ENSP00000417804.1:n.*273+1129C>T | |
| ENST00000473221.5:c.439C>T | ENSP00000419020.1:p.Gln147Ter | |
| ENST00000474658.6:c.226C>T | ||
| ENST00000476858.5:c.439C>T | ENSP00000419042.1:p.Gln147Ter | |
| ENST00000477119.1:c.397C>T | ENSP00000417649.1:p.Gln133Ter | |
| ENST00000478279.5:c.*186C>T | ENSP00000419597.1:n.*186C>T | |
| ENST00000479656.5:c.*404C>T | ENSP00000420071.1:n.*404C>T | |
| ENST00000480031.5:c.*353C>T | ENSP00000417684.1:n.*353C>T | |
| ENST00000482687.5:c.543+1129C>T | ENSP00000419289.1:n.543+1129C>T | |
| ENST00000483148.5:c.*170+1129C>T | ENSP00000419723.1:n.*170+1129C>T | |
| ENST00000485479.5:c.*289C>T | ENSP00000418144.1:n.*289C>T | |
| ENST00000486724.5:n.295C>T | ||
| ENST00000494649.5:c.*404C>T | ENSP00000417634.1:n.*404C>T | |
| ENST00000495360.5:c.*289C>T | ENSP00000419623.1:n.*289C>T | |
| NM_001195248.1:c.601C>T | NP_001182177.1:p.Gln201Ter | |
| NM_001195249.1:c.559C>T | NP_001182178.1:p.Gln187Ter | |
| NM_001195250.1:c.439C>T | NP_001182179.1:p.Gln147Ter | |
| NM_001195251.1:c.559C>T | NP_001182180.1:p.Gln187Ter | |
| NM_001195252.1:c.385C>T | NP_001182181.1:p.Gln129Ter | |
| NM_001195254.1:c.397C>T | NP_001182183.1:p.Gln133Ter | |
| NM_175069.2:c.601C>T | NP_778239.1:p.Gln201Ter | |
| NM_175073.2:c.559C>T | NP_778243.1:p.Gln187Ter | |
| NR_036576.1:n.633C>T | ||
| NR_036577.1:n.523C>T | ||
| NR_036578.1:n.655C>T | ||
| NR_036579.1:n.802C>T | ||
| XM_006716791.2:c.559C>T | XP_006716854.1:p.Gln187Ter | |
| XM_006716792.2:c.295C>T | XP_006716855.1:p.Gln99Ter | |
| XM_011517936.1:c.295C>T | XP_011516238.1:p.Gln99Ter | |
| XM_011517937.1:c.295C>T | XP_011516239.1:p.Gln99Ter | |
| XM_011517938.1:c.295C>T | XP_011516240.1:p.Gln99Ter | |
| XM_011517939.1:c.295C>T | XP_011516241.1:p.Gln99Ter | |
| XR_428423.2:n.622+1129C>T | ||
| XR_929276.1:n.638C>T | ||
| XR_929277.1:n.638C>T | ||
| XR_929279.1:n.622+1129C>T | ||
| XM_006716791.4:c.559C>T | XP_006716854.1:p.Gln187Ter | |
| XM_006716792.3:c.295C>T | XP_006716855.1:p.Gln99Ter | |
| XM_011517938.2:c.295C>T | XP_011516240.1:p.Gln99Ter | |
| XM_011517939.3:c.295C>T | XP_011516241.1:p.Gln99Ter | |
| XM_017014831.1:c.601C>T | XP_016870320.1:p.Gln201Ter | |
| XM_017014832.1:c.601C>T | XP_016870321.1:p.Gln201Ter | |
| XM_017014833.2:c.601C>T | XP_016870322.1:p.Gln201Ter | |
| XM_017014836.2:c.601C>T | XP_016870325.1:p.Gln201Ter | |
| XM_017014837.2:c.397C>T | XP_016870326.1:p.Gln133Ter | |
| XM_017014838.1:c.295C>T | XP_016870327.1:p.Gln99Ter | |
| XM_024447575.1:c.559C>T | XP_024303343.1:p.Gln187Ter | |
| XM_024447576.1:c.559C>T | XP_024303344.1:p.Gln187Ter | |
| XM_024447577.1:c.559C>T | XP_024303345.1:p.Gln187Ter | |
| XM_024447578.1:c.601C>T | XP_024303346.1:p.Gln201Ter | |
| XM_024447579.1:c.559C>T | XP_024303347.1:p.Gln187Ter | |
| XM_024447580.1:c.397C>T | XP_024303348.1:p.Gln133Ter | |
| XM_024447581.1:c.295C>T | XP_024303349.1:p.Gln99Ter | |
| XM_024447582.1:c.295C>T | XP_024303350.1:p.Gln99Ter | |
| XR_001746325.2:n.638C>T | ||
| XR_001746326.2:n.646C>T | ||
| XR_428423.3:n.622+1129C>T | ||
| XR_929276.3:n.638C>T | ||
| XR_929277.3:n.638C>T | ||
| NM_001195248.2:c.559C>T MANE Select | NP_001182177.2:p.Gln187Ter | |
| NM_001195250.2:c.397C>T | NP_001182179.2:p.Gln133Ter | |
| NM_001195252.2:c.343C>T | NP_001182181.2:p.Gln115Ter | |
| NM_001368995.1:c.559C>T | NP_001355924.1:p.Gln187Ter | |
| NM_001368996.1:c.559C>T | NP_001355925.1:p.Gln187Ter | |
| NM_001368997.1:c.559C>T | NP_001355926.1:p.Gln187Ter | |
| NM_001368998.1:c.559C>T | NP_001355927.1:p.Gln187Ter | |
| NM_001368999.1:c.559C>T | NP_001355928.1:p.Gln187Ter | |
| NM_001369000.1:c.397C>T | NP_001355929.1:p.Gln133Ter | |
| NM_001369001.1:c.397C>T | NP_001355930.1:p.Gln133Ter | |
| NM_001369002.1:c.295C>T | NP_001355931.1:p.Gln99Ter | |
| NM_001369003.1:c.295C>T | NP_001355932.1:p.Gln99Ter | |
| NM_001369004.1:c.295C>T | NP_001355933.1:p.Gln99Ter | |
| NM_001369005.1:c.295C>T | NP_001355934.1:p.Gln99Ter | |
| NM_001369006.1:c.295C>T | NP_001355935.1:p.Gln99Ter | |
| NM_001370669.1:c.295C>T | NP_001357598.1:p.Gln99Ter | |
| NM_001370670.1:c.295C>T | NP_001357599.1:p.Gln99Ter | |
| NM_001370673.1:c.295C>T | NP_001357602.1:p.Gln99Ter | |
| NM_175069.3:c.559C>T | NP_778239.2:p.Gln187Ter | |
| NR_160920.1:n.609+1129C>T | ||
| NR_160921.1:n.529C>T | ||
| NR_160922.1:n.760C>T | ||
| NR_160923.1:n.564C>T | ||
| NR_160924.1:n.569C>T | ||
| NR_160925.1:n.765C>T | ||
| NR_160926.1:n.555C>T | ||
| NR_160927.1:n.859+1129C>T | ||
| NR_160928.1:n.749+1129C>T | ||
| NR_160929.1:n.663+1129C>T | ||
| NR_160930.1:n.505C>T | ||
| NR_160931.1:n.744C>T | ||
| NM_001195249.2:c.559C>T | NP_001182178.1:p.Gln187Ter | |
| NM_001195251.2:c.559C>T | NP_001182180.1:p.Gln187Ter | |
| NM_001195254.2:c.397C>T | NP_001182183.1:p.Gln133Ter | |
| NM_175073.3:c.559C>T | NP_778243.1:p.Gln187Ter | |
| NR_036577.2:n.510C>T |