Linked Data
dbSNP Id:
rs1337410607
gnomAD v2:
11-17428699-C-A
gnomAD v3:
11-17407152-C-A
gnomAD v4:
11-17407152-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17407152C>A , CM000673.2:g.17407152C>A | GRCh38 |
| NC_000011.9:g.17428699C>A , CM000673.1:g.17428699C>A | GRCh37 |
| NC_000011.8:g.17385275C>A | NCBI36 |
| NG_008867.1:g.74751G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2490-23G>T | ||
| ENST00000529967.6:n.1237G>T | ||
| ENST00000532220.2:n.653-23G>T | ||
| ENST00000642611.2:n.2990-23G>T | ||
| ENST00000645004.2:n.420-23G>T | ||
| ENST00000682051.1:n.2937-23G>T | ||
| ENST00000682110.1:n.2990-23G>T | ||
| ENST00000682140.1:c.2918-23G>T | ENSP00000507829.1:n.2918-23G>T | |
| ENST00000682185.1:n.4226-23G>T | ||
| ENST00000682204.1:c.*1059-23G>T | ENSP00000507094.1:n.*1059-23G>T | |
| ENST00000682215.1:n.2987-23G>T | ||
| ENST00000682288.1:c.*1352-23G>T | ENSP00000507506.1:n.*1352-23G>T | |
| ENST00000682442.1:n.3111-23G>T | ||
| ENST00000682528.1:n.3044G>T | ||
| ENST00000682673.1:n.2934-23G>T | ||
| ENST00000682805.1:n.2987-23G>T | ||
| ENST00000682965.1:c.2918-23G>T | ENSP00000508229.1:n.2918-23G>T | |
| ENST00000683093.1:n.3089-23G>T | ||
| ENST00000683136.1:c.2918-23G>T | ENSP00000507768.1:n.2918-23G>T | |
| ENST00000683153.1:n.3146-23G>T | ||
| ENST00000683365.1:n.3092-23G>T | ||
| ENST00000683377.1:n.2990-23G>T | ||
| ENST00000683456.1:c.*35G>T | ENSP00000508318.1:n.*35G>T | |
| ENST00000683522.1:n.2990-23G>T | ||
| ENST00000683562.1:c.*1090-23G>T | ENSP00000508265.1:n.*1090-23G>T | |
| ENST00000683693.1:n.3044G>T | ||
| ENST00000683725.1:c.2921-23G>T | ENSP00000507496.1:n.2921-23G>T | |
| ENST00000684010.1:n.2962G>T | ||
| ENST00000684157.1:n.2990-23G>T | ||
| ENST00000684253.1:n.2893-23G>T | ||
| ENST00000684288.1:c.*1093-23G>T | ENSP00000507143.1:n.*1093-23G>T | |
| ENST00000684313.1:n.2422-23G>T | ||
| ENST00000684332.1:n.3063-23G>T | ||
| ENST00000684371.1:n.3096-23G>T | ||
| ENST00000684404.1:n.3010G>T | ||
| ENST00000684442.1:n.2990-23G>T | ||
| ENST00000684555.1:c.*1133-23G>T | ENSP00000507705.1:n.*1133-23G>T | |
| ENST00000684571.1:c.2762-23G>T | ENSP00000506935.1:n.2762-23G>T | |
| ENST00000684593.1:c.*2626-23G>T | ENSP00000507005.1:n.*2626-23G>T | |
| ENST00000684711.1:c.*1317-23G>T | ENSP00000506841.1:n.*1317-23G>T | |
| ENST00000302539.9:c.2924-23G>T | ENSP00000303960.4:n.2924-23G>T | |
| ENST00000389817.8:c.2921-23G>T MANE Select | ENSP00000374467.4:n.2921-23G>T | |
| ENST00000642271.1:c.2918-23G>T | ENSP00000493749.1:n.2918-23G>T | |
| ENST00000642579.1:c.1005-23G>T | ||
| ENST00000642611.1:n.2875-23G>T | ||
| ENST00000642902.1:c.2756-76G>T | ||
| ENST00000643260.1:c.2921-23G>T | ENSP00000494450.1:n.2921-23G>T | |
| ENST00000643562.1:c.*897-23G>T | ENSP00000496124.1:n.*897-23G>T | |
| ENST00000643925.1:c.1022G>T | ||
| ENST00000644447.1:c.1277-23G>T | ENSP00000496282.1:n.1277-23G>T | |
| ENST00000644484.1:c.*1153G>T | ENSP00000493558.1:n.*1153G>T | |
| ENST00000644542.1:c.*2626-23G>T | ENSP00000495532.1:n.*2626-23G>T | |
| ENST00000644675.1:c.*1093-23G>T | ENSP00000494567.1:n.*1093-23G>T | |
| ENST00000644757.1:c.*1183G>T | ENSP00000495085.1:n.*1183G>T | |
| ENST00000644772.1:c.2987-23G>T | ENSP00000494321.1:n.2987-23G>T | |
| ENST00000645004.1:n.60-23G>T | ||
| ENST00000645076.1:c.2173-76G>T | ||
| ENST00000645417.1:c.87-23G>T | ||
| ENST00000645744.1:c.*1185-23G>T | ENSP00000494564.1:n.*1185-23G>T | |
| ENST00000645760.1:c.3196-23G>T | ||
| ENST00000645884.1:c.*35G>T | ENSP00000495516.1:n.*35G>T | |
| ENST00000646003.1:c.*877-23G>T | ENSP00000495259.1:n.*877-23G>T | |
| ENST00000646207.1:c.*1388-23G>T | ENSP00000495025.1:n.*1388-23G>T | |
| ENST00000646276.1:c.*1194-23G>T | ENSP00000496070.1:n.*1194-23G>T | |
| ENST00000646592.1:c.2204G>T | ||
| ENST00000646902.1:c.2918-23G>T | ENSP00000494101.1:n.2918-23G>T | |
| ENST00000646993.1:c.*1317-23G>T | ENSP00000493720.1:n.*1317-23G>T | |
| ENST00000647013.1:c.2927-23G>T | ENSP00000496741.1:n.2927-23G>T | |
| ENST00000647015.1:c.2672-23G>T | ENSP00000495389.1:n.2672-23G>T | |
| ENST00000647086.1:c.*2651-23G>T | ENSP00000493677.1:n.*2651-23G>T | |
| ENST00000647158.1:c.*1062-23G>T | ENSP00000495744.1:n.*1062-23G>T | |
| ENST00000302539.8:c.2924-23G>T | ENSP00000303960.4:n.2924-23G>T | |
| ENST00000389817.7:c.2921-23G>T | ENSP00000374467.3:n.2921-23G>T | |
| ENST00000524561.1:n.30G>T | ||
| ENST00000526921.5:n.605-23G>T | ||
| ENST00000527905.5:c.2791-23G>T | ENSP00000431653.1:n.2791-23G>T | |
| ENST00000529967.5:n.590-23G>T | ||
| NM_000352.4:c.2921-23G>T | NP_000343.2:n.2921-23G>T | |
| NM_001287174.1:c.2924-23G>T | NP_001274103.1:n.2924-23G>T | |
| XM_011520331.1:c.2921-23G>T | XP_011518633.1:n.2921-23G>T | |
| XM_011520332.1:c.2924-23G>T | XP_011518634.1:n.2924-23G>T | |
| XM_011520333.1:c.1421-23G>T | XP_011518635.1:n.1421-23G>T | |
| XM_011520334.1:c.*35G>T | XP_011518636.1:n.*35G>T | |
| XR_930890.1:n.2987-23G>T | ||
| XR_930891.1:n.2987-23G>T | ||
| XR_930892.1:n.2887-23G>T | ||
| XR_930893.1:n.2884-23G>T | ||
| NM_001351295.1:c.2987-23G>T | NP_001338224.1:n.2987-23G>T | |
| NM_001351296.1:c.2921-23G>T | NP_001338225.1:n.2921-23G>T | |
| NM_001351297.1:c.2918-23G>T | NP_001338226.1:n.2918-23G>T | |
| NR_147094.1:n.3047G>T | ||
| XM_017018197.2:c.2990-23G>T | XP_016873686.1:n.2990-23G>T | |
| XM_017018199.1:c.2987-23G>T | XP_016873688.1:n.2987-23G>T | |
| XM_017018201.2:c.2990-23G>T | XP_016873690.1:n.2990-23G>T | |
| XM_017018202.1:c.1487-23G>T | XP_016873691.1:n.1487-23G>T | |
| XM_017018204.1:c.878-23G>T | XP_016873693.1:n.878-23G>T | |
| XM_024448668.1:c.1289-23G>T | XP_024304436.1:n.1289-23G>T | |
| XR_001747945.2:n.3062-23G>T | ||
| XR_001747946.2:n.2993-23G>T | ||
| XR_002957189.1:n.3119G>T | ||
| NM_000352.6:c.2921-23G>T MANE Select | NP_000343.2:n.2921-23G>T | |
| NM_001287174.2:c.2924-23G>T | NP_001274103.1:n.2924-23G>T | |
| NM_001351295.2:c.2987-23G>T | NP_001338224.1:n.2987-23G>T | |
| NM_001351296.2:c.2921-23G>T | NP_001338225.1:n.2921-23G>T | |
| NM_001351297.2:c.2918-23G>T | NP_001338226.1:n.2918-23G>T | |
| NR_147094.2:n.3047G>T | ||
| NM_001287174.3:c.2924-23G>T | NP_001274103.1:n.2924-23G>T |