Linked Data
ClinVar Variation Id:
990388
dbSNP Id:
rs565968675
gnomAD v3:
11-17404567-A-G
gnomAD v4:
11-17404567-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404567A>G , CM000673.2:g.17404567A>G | GRCh38 |
| NC_000011.9:g.17426114A>G , CM000673.1:g.17426114A>G | GRCh37 |
| NC_000011.8:g.17382690A>G | NCBI36 |
| NG_008867.1:g.77336T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3071T>C | ||
| ENST00000528374.2:c.81T>C | ||
| ENST00000529967.6:n.1841T>C | ||
| ENST00000532220.2:n.1234T>C | ||
| ENST00000642611.2:n.3571T>C | ||
| ENST00000645004.2:n.1001T>C | ||
| ENST00000682051.1:n.3518T>C | ||
| ENST00000682110.1:n.3571T>C | ||
| ENST00000682140.1:c.3499T>C | ENSP00000507829.1:p.Leu1167= | |
| ENST00000682185.1:n.4807T>C | ||
| ENST00000682204.1:c.*1640T>C | ENSP00000507094.1:n.*1640T>C | |
| ENST00000682215.1:n.3568T>C | ||
| ENST00000682288.1:c.*1933T>C | ENSP00000507506.1:n.*1933T>C | |
| ENST00000682442.1:n.3791T>C | ||
| ENST00000682528.1:n.3648T>C | ||
| ENST00000682673.1:n.3515T>C | ||
| ENST00000682805.1:n.3568T>C | ||
| ENST00000682965.1:c.3396+927T>C | ENSP00000508229.1:n.3396+927T>C | |
| ENST00000683093.1:n.3670T>C | ||
| ENST00000683136.1:c.3499T>C | ENSP00000507768.1:p.Leu1167= | |
| ENST00000683153.1:n.3727T>C | ||
| ENST00000683365.1:n.3673T>C | ||
| ENST00000683377.1:n.3571T>C | ||
| ENST00000683456.1:c.*639T>C | ENSP00000508318.1:n.*639T>C | |
| ENST00000683522.1:n.3571T>C | ||
| ENST00000683562.1:c.*1671T>C | ENSP00000508265.1:n.*1671T>C | |
| ENST00000683693.1:n.3648T>C | ||
| ENST00000683725.1:c.3502T>C | ENSP00000507496.1:p.Leu1168= | |
| ENST00000684010.1:n.3566T>C | ||
| ENST00000684157.1:n.3571T>C | ||
| ENST00000684253.1:n.3474T>C | ||
| ENST00000684288.1:c.*1674T>C | ENSP00000507143.1:n.*1674T>C | |
| ENST00000684313.1:n.3003T>C | ||
| ENST00000684332.1:n.3644T>C | ||
| ENST00000684371.1:n.3677T>C | ||
| ENST00000684404.1:n.3614T>C | ||
| ENST00000684442.1:n.3571T>C | ||
| ENST00000684555.1:c.*1714T>C | ENSP00000507705.1:n.*1714T>C | |
| ENST00000684571.1:c.3343T>C | ENSP00000506935.1:p.Leu1115= | |
| ENST00000684593.1:c.*3207T>C | ENSP00000507005.1:n.*3207T>C | |
| ENST00000684711.1:c.*1898T>C | ENSP00000506841.1:n.*1898T>C | |
| ENST00000302539.9:c.3505T>C | ENSP00000303960.4:p.Leu1169= | |
| ENST00000389817.8:c.3502T>C MANE Select | ENSP00000374467.4:p.Leu1168= | |
| ENST00000642271.1:c.3499T>C | ENSP00000493749.1:p.Leu1167= | |
| ENST00000642579.1:c.1586T>C | ||
| ENST00000642611.1:n.3456T>C | ||
| ENST00000642902.1:c.3284T>C | ||
| ENST00000643260.1:c.3502T>C | ENSP00000494450.1:p.Leu1168= | |
| ENST00000643562.1:c.*1478T>C | ENSP00000496124.1:n.*1478T>C | |
| ENST00000643925.1:c.1626T>C | ||
| ENST00000644447.1:c.1858T>C | ENSP00000496282.1:p.Leu620= | |
| ENST00000644484.1:c.*1757T>C | ENSP00000493558.1:n.*1757T>C | |
| ENST00000644675.1:c.*1674T>C | ENSP00000494567.1:n.*1674T>C | |
| ENST00000644757.1:c.*1787T>C | ENSP00000495085.1:n.*1787T>C | |
| ENST00000644772.1:c.3568T>C | ENSP00000494321.1:p.Leu1190= | |
| ENST00000645004.1:n.641T>C | ||
| ENST00000645076.1:c.2701T>C | ||
| ENST00000645417.1:c.668T>C | ||
| ENST00000645744.1:c.*1766T>C | ENSP00000494564.1:n.*1766T>C | |
| ENST00000645760.1:c.3777T>C | ||
| ENST00000645884.1:c.*639T>C | ENSP00000495516.1:n.*639T>C | |
| ENST00000646003.1:c.*1458T>C | ENSP00000495259.1:n.*1458T>C | |
| ENST00000646207.1:c.*1969T>C | ENSP00000495025.1:n.*1969T>C | |
| ENST00000646276.1:c.*1775T>C | ENSP00000496070.1:n.*1775T>C | |
| ENST00000646592.1:c.2808T>C | ||
| ENST00000646902.1:c.3499T>C | ENSP00000494101.1:p.Leu1167= | |
| ENST00000646993.1:c.*1898T>C | ENSP00000493720.1:n.*1898T>C | |
| ENST00000647013.1:c.3508T>C | ENSP00000496741.1:n.3508T>C | |
| ENST00000647015.1:c.3253T>C | ENSP00000495389.1:p.Leu1085= | |
| ENST00000647086.1:c.*3232T>C | ENSP00000493677.1:n.*3232T>C | |
| ENST00000647158.1:c.*1643T>C | ENSP00000495744.1:n.*1643T>C | |
| ENST00000302539.8:c.3505T>C | ENSP00000303960.4:p.Leu1169= | |
| ENST00000389817.7:c.3502T>C | ENSP00000374467.3:p.Leu1168= | |
| ENST00000524561.1:n.634T>C | ||
| ENST00000527905.5:c.*378T>C | ENSP00000431653.1:n.*378T>C | |
| NM_000352.4:c.3502T>C | NP_000343.2:p.Leu1168= | |
| NM_001287174.1:c.3505T>C | NP_001274103.1:p.Leu1169= | |
| XM_011520331.1:c.3502T>C | XP_011518633.1:p.Leu1168= | |
| XM_011520332.1:c.3505T>C | XP_011518634.1:p.Leu1169= | |
| XM_011520333.1:c.2002T>C | XP_011518635.1:p.Leu668= | |
| XR_930890.1:n.3568T>C | ||
| XR_930892.1:n.3468T>C | ||
| XR_930893.1:n.3465T>C | ||
| NM_001351295.1:c.3568T>C | NP_001338224.1:p.Leu1190= | |
| NM_001351296.1:c.3502T>C | NP_001338225.1:p.Leu1168= | |
| NM_001351297.1:c.3499T>C | NP_001338226.1:p.Leu1167= | |
| NR_147094.1:n.3651T>C | ||
| XM_017018197.2:c.3571T>C | XP_016873686.1:p.Leu1191= | |
| XM_017018199.1:c.3568T>C | XP_016873688.1:p.Leu1190= | |
| XM_017018201.2:c.3571T>C | XP_016873690.1:p.Leu1191= | |
| XM_017018202.1:c.2068T>C | XP_016873691.1:p.Leu690= | |
| XM_017018204.1:c.1459T>C | XP_016873693.1:p.Leu487= | |
| XM_024448668.1:c.1870T>C | XP_024304436.1:p.Leu624= | |
| XR_001747945.2:n.3643T>C | ||
| XR_001747946.2:n.3574T>C | ||
| XR_002957189.1:n.3723T>C | ||
| NM_000352.6:c.3502T>C MANE Select | NP_000343.2:p.Leu1168= | |
| NM_001287174.2:c.3505T>C | NP_001274103.1:p.Leu1169= | |
| NM_001351295.2:c.3568T>C | NP_001338224.1:p.Leu1190= | |
| NM_001351296.2:c.3502T>C | NP_001338225.1:p.Leu1168= | |
| NM_001351297.2:c.3499T>C | NP_001338226.1:p.Leu1167= | |
| NR_147094.2:n.3651T>C | ||
| NM_001287174.3:c.3505T>C | NP_001274103.1:p.Leu1169= |