Linked Data
dbSNP Id:
rs762368420
ExAC:
11:17426257 A / G
gnomAD v2:
11-17426257-A-G
gnomAD v3:
11-17404710-A-G
gnomAD v4:
11-17404710-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404710A>G , CM000673.2:g.17404710A>G | GRCh38 |
| NC_000011.9:g.17426257A>G , CM000673.1:g.17426257A>G | GRCh37 |
| NC_000011.8:g.17382833A>G | NCBI36 |
| NG_008867.1:g.77193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2969-41T>C | ||
| ENST00000529967.6:n.1739-41T>C | ||
| ENST00000532220.2:n.1132-41T>C | ||
| ENST00000642611.2:n.3469-41T>C | ||
| ENST00000645004.2:n.899-41T>C | ||
| ENST00000682051.1:n.3416-41T>C | ||
| ENST00000682110.1:n.3469-41T>C | ||
| ENST00000682140.1:c.3397-41T>C | ENSP00000507829.1:n.3397-41T>C | |
| ENST00000682185.1:n.4705-41T>C | ||
| ENST00000682204.1:c.*1538-41T>C | ENSP00000507094.1:n.*1538-41T>C | |
| ENST00000682215.1:n.3466-41T>C | ||
| ENST00000682288.1:c.*1831-41T>C | ENSP00000507506.1:n.*1831-41T>C | |
| ENST00000682442.1:n.3689-41T>C | ||
| ENST00000682528.1:n.3546-41T>C | ||
| ENST00000682673.1:n.3413-41T>C | ||
| ENST00000682805.1:n.3466-41T>C | ||
| ENST00000682965.1:c.3396+784T>C | ENSP00000508229.1:n.3396+784T>C | |
| ENST00000683093.1:n.3568-41T>C | ||
| ENST00000683136.1:c.3397-41T>C | ENSP00000507768.1:n.3397-41T>C | |
| ENST00000683153.1:n.3625-41T>C | ||
| ENST00000683365.1:n.3571-41T>C | ||
| ENST00000683377.1:n.3469-41T>C | ||
| ENST00000683456.1:c.*537-41T>C | ENSP00000508318.1:n.*537-41T>C | |
| ENST00000683522.1:n.3469-41T>C | ||
| ENST00000683562.1:c.*1569-41T>C | ENSP00000508265.1:n.*1569-41T>C | |
| ENST00000683693.1:n.3546-41T>C | ||
| ENST00000683725.1:c.3400-41T>C | ENSP00000507496.1:n.3400-41T>C | |
| ENST00000684010.1:n.3464-41T>C | ||
| ENST00000684157.1:n.3469-41T>C | ||
| ENST00000684253.1:n.3372-41T>C | ||
| ENST00000684288.1:c.*1572-41T>C | ENSP00000507143.1:n.*1572-41T>C | |
| ENST00000684313.1:n.2901-41T>C | ||
| ENST00000684332.1:n.3542-41T>C | ||
| ENST00000684371.1:n.3575-41T>C | ||
| ENST00000684404.1:n.3512-41T>C | ||
| ENST00000684442.1:n.3469-41T>C | ||
| ENST00000684555.1:c.*1612-41T>C | ENSP00000507705.1:n.*1612-41T>C | |
| ENST00000684571.1:c.3241-41T>C | ENSP00000506935.1:n.3241-41T>C | |
| ENST00000684593.1:c.*3105-41T>C | ENSP00000507005.1:n.*3105-41T>C | |
| ENST00000684711.1:c.*1796-41T>C | ENSP00000506841.1:n.*1796-41T>C | |
| ENST00000302539.9:c.3403-41T>C | ENSP00000303960.4:n.3403-41T>C | |
| ENST00000389817.8:c.3400-41T>C MANE Select | ENSP00000374467.4:n.3400-41T>C | |
| ENST00000642271.1:c.3397-41T>C | ENSP00000493749.1:n.3397-41T>C | |
| ENST00000642579.1:c.1484-41T>C | ||
| ENST00000642611.1:n.3354-41T>C | ||
| ENST00000642902.1:c.3182-41T>C | ||
| ENST00000643260.1:c.3400-41T>C | ENSP00000494450.1:n.3400-41T>C | |
| ENST00000643562.1:c.*1376-41T>C | ENSP00000496124.1:n.*1376-41T>C | |
| ENST00000643925.1:c.1524-41T>C | ||
| ENST00000644447.1:c.1756-41T>C | ENSP00000496282.1:n.1756-41T>C | |
| ENST00000644484.1:c.*1655-41T>C | ENSP00000493558.1:n.*1655-41T>C | |
| ENST00000644675.1:c.*1572-41T>C | ENSP00000494567.1:n.*1572-41T>C | |
| ENST00000644757.1:c.*1685-41T>C | ENSP00000495085.1:n.*1685-41T>C | |
| ENST00000644772.1:c.3466-41T>C | ENSP00000494321.1:n.3466-41T>C | |
| ENST00000645004.1:n.539-41T>C | ||
| ENST00000645076.1:c.2599-41T>C | ||
| ENST00000645417.1:c.566-41T>C | ||
| ENST00000645744.1:c.*1664-41T>C | ENSP00000494564.1:n.*1664-41T>C | |
| ENST00000645760.1:c.3675-41T>C | ||
| ENST00000645884.1:c.*537-41T>C | ENSP00000495516.1:n.*537-41T>C | |
| ENST00000646003.1:c.*1356-41T>C | ENSP00000495259.1:n.*1356-41T>C | |
| ENST00000646207.1:c.*1867-41T>C | ENSP00000495025.1:n.*1867-41T>C | |
| ENST00000646276.1:c.*1673-41T>C | ENSP00000496070.1:n.*1673-41T>C | |
| ENST00000646592.1:c.2706-41T>C | ||
| ENST00000646902.1:c.3397-41T>C | ENSP00000494101.1:n.3397-41T>C | |
| ENST00000646993.1:c.*1796-41T>C | ENSP00000493720.1:n.*1796-41T>C | |
| ENST00000647013.1:c.3406-41T>C | ENSP00000496741.1:n.3406-41T>C | |
| ENST00000647015.1:c.3151-41T>C | ENSP00000495389.1:n.3151-41T>C | |
| ENST00000647086.1:c.*3130-41T>C | ENSP00000493677.1:n.*3130-41T>C | |
| ENST00000647158.1:c.*1541-41T>C | ENSP00000495744.1:n.*1541-41T>C | |
| ENST00000302539.8:c.3403-41T>C | ENSP00000303960.4:n.3403-41T>C | |
| ENST00000389817.7:c.3400-41T>C | ENSP00000374467.3:n.3400-41T>C | |
| ENST00000524561.1:n.532-41T>C | ||
| ENST00000527905.5:c.*276-41T>C | ENSP00000431653.1:n.*276-41T>C | |
| NM_000352.4:c.3400-41T>C | NP_000343.2:n.3400-41T>C | |
| NM_001287174.1:c.3403-41T>C | NP_001274103.1:n.3403-41T>C | |
| XM_011520331.1:c.3400-41T>C | XP_011518633.1:n.3400-41T>C | |
| XM_011520332.1:c.3403-41T>C | XP_011518634.1:n.3403-41T>C | |
| XM_011520333.1:c.1900-41T>C | XP_011518635.1:n.1900-41T>C | |
| XR_930890.1:n.3466-41T>C | ||
| XR_930891.1:n.3467-41T>C | ||
| XR_930892.1:n.3366-41T>C | ||
| XR_930893.1:n.3363-41T>C | ||
| NM_001351295.1:c.3466-41T>C | NP_001338224.1:n.3466-41T>C | |
| NM_001351296.1:c.3400-41T>C | NP_001338225.1:n.3400-41T>C | |
| NM_001351297.1:c.3397-41T>C | NP_001338226.1:n.3397-41T>C | |
| NR_147094.1:n.3549-41T>C | ||
| XM_017018197.2:c.3469-41T>C | XP_016873686.1:n.3469-41T>C | |
| XM_017018199.1:c.3466-41T>C | XP_016873688.1:n.3466-41T>C | |
| XM_017018201.2:c.3469-41T>C | XP_016873690.1:n.3469-41T>C | |
| XM_017018202.1:c.1966-41T>C | XP_016873691.1:n.1966-41T>C | |
| XM_017018204.1:c.1357-41T>C | XP_016873693.1:n.1357-41T>C | |
| XM_024448668.1:c.1768-41T>C | XP_024304436.1:n.1768-41T>C | |
| XR_001747945.2:n.3541-41T>C | ||
| XR_001747946.2:n.3472-41T>C | ||
| XR_002957189.1:n.3621-41T>C | ||
| NM_000352.6:c.3400-41T>C MANE Select | NP_000343.2:n.3400-41T>C | |
| NM_001287174.2:c.3403-41T>C | NP_001274103.1:n.3403-41T>C | |
| NM_001351295.2:c.3466-41T>C | NP_001338224.1:n.3466-41T>C | |
| NM_001351296.2:c.3400-41T>C | NP_001338225.1:n.3400-41T>C | |
| NM_001351297.2:c.3397-41T>C | NP_001338226.1:n.3397-41T>C | |
| NR_147094.2:n.3549-41T>C | ||
| NM_001287174.3:c.3403-41T>C | NP_001274103.1:n.3403-41T>C |