Linked Data
ClinVar Variation Id:
366580
dbSNP Id:
rs772290850
ExAC:
9:32972638 G / C
gnomAD v2:
9-32972638-G-C
gnomAD v3:
9-32972640-G-C
gnomAD v4:
9-32972640-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32972640G>C , CM000671.2:g.32972640G>C | GRCh38 |
| NC_000009.11:g.32972638G>C , CM000671.1:g.32972638G>C | GRCh37 |
| NC_000009.10:g.32962638G>C | NCBI36 |
| NG_012821.1:g.33989C>G | |
| NG_012821.2:g.57492C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379817.7:c.*858C>G MANE Select | ENSP00000369145.2:n.*858C>G | |
| ENST00000379825.7:c.*1044C>G | ENSP00000369153.3:n.*1044C>G | |
| ENST00000397172.8:c.*858C>G | ENSP00000380357.4:n.*858C>G | |
| ENST00000436040.7:c.*858C>G | ENSP00000400806.4:n.*858C>G | |
| ENST00000465003.6:c.*1617C>G | ENSP00000419430.2:n.*1617C>G | |
| ENST00000467331.6:c.*1732C>G | ENSP00000418733.1:n.*1732C>G | |
| ENST00000472896.6:c.*1681C>G | ENSP00000417804.2:n.*1681C>G | |
| ENST00000479656.6:c.*1732C>G | ENSP00000420071.1:n.*1732C>G | |
| ENST00000672152.1:n.1857C>G | ||
| ENST00000672244.1:c.*1081C>G | ENSP00000499875.1:n.*1081C>G | |
| ENST00000672476.1:n.2079C>G | ||
| ENST00000672519.1:c.*388+13331C>G | ENSP00000500320.1:n.*388+13331C>G | |
| ENST00000672615.1:n.1964C>G | ||
| ENST00000672846.1:c.*825+792C>G | ENSP00000500396.1:n.*825+792C>G | |
| ENST00000673171.1:n.1737C>G | ||
| ENST00000673211.1:n.1969C>G | ||
| ENST00000673333.1:n.2165C>G | ||
| ENST00000673360.1:c.*1330C>G | ENSP00000500360.1:n.*1330C>G | |
| ENST00000673416.1:c.*858C>G | ENSP00000500738.1:n.*858C>G | |
| ENST00000673485.1:n.2084C>G | ||
| ENST00000673487.1:c.*1617C>G | ENSP00000500943.1:n.*1617C>G | |
| ENST00000309615.7:c.*858C>G | ENSP00000311547.4:n.*858C>G | |
| ENST00000379817.6:c.*858C>G | ENSP00000369145.2:n.*858C>G | |
| ENST00000379825.6:c.*1044C>G | ENSP00000369153.2:n.*1044C>G | |
| ENST00000397172.7:c.*858C>G | ENSP00000380357.3:n.*858C>G | |
| ENST00000436040.6:c.*858C>G | ENSP00000400806.3:n.*858C>G | |
| ENST00000460940.5:c.*1505C>G | ENSP00000418311.1:n.*1505C>G | |
| ENST00000465003.5:c.*1514C>G | ENSP00000419430.1:n.*1514C>G | |
| ENST00000467331.5:c.*1732C>G | ENSP00000418733.1:n.*1732C>G | |
| ENST00000472896.5:c.*1390C>G | ENSP00000417804.1:n.*1390C>G | |
| ENST00000482687.5:c.*1081C>G | ENSP00000419289.1:n.*1081C>G | |
| ENST00000483148.5:c.*1287C>G | ENSP00000419723.1:n.*1287C>G | |
| ENST00000485479.5:c.*1617C>G | ENSP00000418144.1:n.*1617C>G | |
| ENST00000494649.5:c.*1732C>G | ENSP00000417634.1:n.*1732C>G | |
| NM_001195248.1:c.*858C>G | NP_001182177.1:n.*858C>G | |
| NM_001195249.1:c.*858C>G | NP_001182178.1:n.*858C>G | |
| NM_001195250.1:c.*858C>G | NP_001182179.1:n.*858C>G | |
| NM_001195251.1:c.*1044C>G | NP_001182180.1:n.*1044C>G | |
| NM_001195252.1:c.*858C>G | NP_001182181.1:n.*858C>G | |
| NM_001195254.1:c.*858C>G | NP_001182183.1:n.*858C>G | |
| NM_175069.2:c.*1044C>G | NP_778239.1:n.*1044C>G | |
| NM_175073.2:c.*858C>G | NP_778243.1:n.*858C>G | |
| NR_036576.1:n.1961C>G | ||
| NR_036577.1:n.1851C>G | ||
| NR_036578.1:n.1983C>G | ||
| NR_036579.1:n.2130C>G | ||
| XM_006716791.2:c.*858C>G | XP_006716854.1:n.*858C>G | |
| XM_006716792.2:c.*858C>G | XP_006716855.1:n.*858C>G | |
| XM_011517936.1:c.*858C>G | XP_011516238.1:n.*858C>G | |
| XM_011517937.1:c.*858C>G | XP_011516239.1:n.*858C>G | |
| XM_011517938.1:c.*858C>G | XP_011516240.1:n.*858C>G | |
| XM_011517939.1:c.*858C>G | XP_011516241.1:n.*858C>G | |
| XR_428423.2:n.1739C>G | ||
| XR_929276.1:n.2338C>G | ||
| XR_929277.1:n.2361C>G | ||
| XM_006716791.4:c.*858C>G | XP_006716854.1:n.*858C>G | |
| XM_006716792.3:c.*858C>G | XP_006716855.1:n.*858C>G | |
| XM_011517938.2:c.*858C>G | XP_011516240.1:n.*858C>G | |
| XM_011517939.3:c.*858C>G | XP_011516241.1:n.*858C>G | |
| XM_017014831.1:c.813-5867C>G | XP_016870320.1:n.813-5867C>G | |
| XM_017014832.1:c.813-5867C>G | XP_016870321.1:n.813-5867C>G | |
| XM_017014833.2:c.813-5867C>G | XP_016870322.1:n.813-5867C>G | |
| XM_017014836.2:c.813-5867C>G | XP_016870325.1:n.813-5867C>G | |
| XM_017014837.2:c.*858C>G | XP_016870326.1:n.*858C>G | |
| XM_024447575.1:c.*858C>G | XP_024303343.1:n.*858C>G | |
| XM_024447576.1:c.*858C>G | XP_024303344.1:n.*858C>G | |
| XM_024447577.1:c.*858C>G | XP_024303345.1:n.*858C>G | |
| XM_024447578.1:c.813-5867C>G | XP_024303346.1:n.813-5867C>G | |
| XM_024447580.1:c.*858C>G | XP_024303348.1:n.*858C>G | |
| XM_024447581.1:c.*858C>G | XP_024303349.1:n.*858C>G | |
| XM_024447582.1:c.*858C>G | XP_024303350.1:n.*858C>G | |
| XR_001746325.2:n.2397C>G | ||
| XR_001746326.2:n.2346C>G | ||
| XR_428423.3:n.1739C>G | ||
| XR_929276.3:n.2338C>G | ||
| XR_929277.3:n.2361C>G | ||
| NM_001195248.2:c.*858C>G MANE Select | NP_001182177.2:n.*858C>G | |
| NM_001195250.2:c.*858C>G | NP_001182179.2:n.*858C>G | |
| NM_001195252.2:c.*858C>G | NP_001182181.2:n.*858C>G | |
| NM_001368995.1:c.*858C>G | NP_001355924.1:n.*858C>G | |
| NM_001368996.1:c.*858C>G | NP_001355925.1:n.*858C>G | |
| NM_001368997.1:c.*858C>G | NP_001355926.1:n.*858C>G | |
| NM_001368998.1:c.*858C>G | NP_001355927.1:n.*858C>G | |
| NM_001368999.1:c.*1044C>G | NP_001355928.1:n.*1044C>G | |
| NM_001369000.1:c.*858C>G | NP_001355929.1:n.*858C>G | |
| NM_001369001.1:c.*858C>G | NP_001355930.1:n.*858C>G | |
| NM_001369002.1:c.*858C>G | NP_001355931.1:n.*858C>G | |
| NM_001369003.1:c.*858C>G | NP_001355932.1:n.*858C>G | |
| NM_001369004.1:c.*858C>G | NP_001355933.1:n.*858C>G | |
| NM_001369005.1:c.*858C>G | NP_001355934.1:n.*858C>G | |
| NM_001369006.1:c.*1044C>G | NP_001355935.1:n.*1044C>G | |
| NM_001370669.1:c.*858C>G | NP_001357598.1:n.*858C>G | |
| NM_001370670.1:c.*858C>G | NP_001357599.1:n.*858C>G | |
| NM_001370673.1:c.*858C>G | NP_001357602.1:n.*858C>G | |
| NM_175069.3:c.*1044C>G | NP_778239.2:n.*1044C>G | |
| NR_160920.1:n.1726C>G | ||
| NR_160921.1:n.1857C>G | ||
| NR_160922.1:n.2088C>G | ||
| NR_160923.1:n.1892C>G | ||
| NR_160924.1:n.1897C>G | ||
| NR_160925.1:n.2093C>G | ||
| NR_160926.1:n.1883C>G | ||
| NR_160927.1:n.1976C>G | ||
| NR_160928.1:n.1902C>G | ||
| NR_160929.1:n.1780C>G | ||
| NR_160930.1:n.1833C>G | ||
| NR_160931.1:n.2072C>G | ||
| NM_001195249.2:c.*858C>G | NP_001182178.1:n.*858C>G | |
| NM_001195251.2:c.*1044C>G | NP_001182180.1:n.*1044C>G | |
| NM_001195254.2:c.*858C>G | NP_001182183.1:n.*858C>G | |
| NM_175073.3:c.*858C>G | NP_778243.1:n.*858C>G | |
| NR_036577.2:n.1838C>G |