Linked Data
dbSNP Id:
rs760425259
ExAC:
11:17428459 T / G
gnomAD v2:
11-17428459-T-G
gnomAD v4:
11-17406912-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406912T>G , CM000673.2:g.17406912T>G | GRCh38 |
| NC_000011.9:g.17428459T>G , CM000673.1:g.17428459T>G | GRCh37 |
| NC_000011.8:g.17385035T>G | NCBI36 |
| NG_008867.1:g.74991A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2707A>C | ||
| ENST00000529967.6:n.1477A>C | ||
| ENST00000532220.2:n.870A>C | ||
| ENST00000642611.2:n.3207A>C | ||
| ENST00000645004.2:n.637A>C | ||
| ENST00000682051.1:n.3154A>C | ||
| ENST00000682110.1:n.3207A>C | ||
| ENST00000682140.1:c.3135A>C | ENSP00000507829.1:p.Ala1045= | |
| ENST00000682185.1:n.4443A>C | ||
| ENST00000682204.1:c.*1276A>C | ENSP00000507094.1:n.*1276A>C | |
| ENST00000682215.1:n.3204A>C | ||
| ENST00000682288.1:c.*1569A>C | ENSP00000507506.1:n.*1569A>C | |
| ENST00000682442.1:n.3328A>C | ||
| ENST00000682528.1:n.3284A>C | ||
| ENST00000682673.1:n.3151A>C | ||
| ENST00000682805.1:n.3204A>C | ||
| ENST00000682965.1:c.3135A>C | ENSP00000508229.1:p.Ala1045= | |
| ENST00000683093.1:n.3306A>C | ||
| ENST00000683136.1:c.3135A>C | ENSP00000507768.1:p.Ala1045= | |
| ENST00000683153.1:n.3363A>C | ||
| ENST00000683365.1:n.3309A>C | ||
| ENST00000683377.1:n.3207A>C | ||
| ENST00000683456.1:c.*275A>C | ENSP00000508318.1:n.*275A>C | |
| ENST00000683522.1:n.3207A>C | ||
| ENST00000683562.1:c.*1307A>C | ENSP00000508265.1:n.*1307A>C | |
| ENST00000683693.1:n.3284A>C | ||
| ENST00000683725.1:c.3138A>C | ENSP00000507496.1:p.Ala1046= | |
| ENST00000684010.1:n.3202A>C | ||
| ENST00000684157.1:n.3207A>C | ||
| ENST00000684253.1:n.3110A>C | ||
| ENST00000684288.1:c.*1310A>C | ENSP00000507143.1:n.*1310A>C | |
| ENST00000684313.1:n.2639A>C | ||
| ENST00000684332.1:n.3280A>C | ||
| ENST00000684371.1:n.3313A>C | ||
| ENST00000684404.1:n.3250A>C | ||
| ENST00000684442.1:n.3207A>C | ||
| ENST00000684555.1:c.*1350A>C | ENSP00000507705.1:n.*1350A>C | |
| ENST00000684571.1:c.2979A>C | ENSP00000506935.1:p.Ala993= | |
| ENST00000684593.1:c.*2843A>C | ENSP00000507005.1:n.*2843A>C | |
| ENST00000684711.1:c.*1534A>C | ENSP00000506841.1:n.*1534A>C | |
| ENST00000302539.9:c.3141A>C | ENSP00000303960.4:p.Ala1047= | |
| ENST00000389817.8:c.3138A>C MANE Select | ENSP00000374467.4:p.Ala1046= | |
| ENST00000642271.1:c.3135A>C | ENSP00000493749.1:p.Ala1045= | |
| ENST00000642579.1:c.1222A>C | ||
| ENST00000642611.1:n.3092A>C | ||
| ENST00000642902.1:c.2920A>C | ||
| ENST00000643260.1:c.3138A>C | ENSP00000494450.1:p.Ala1046= | |
| ENST00000643562.1:c.*1114A>C | ENSP00000496124.1:n.*1114A>C | |
| ENST00000643925.1:c.1262A>C | ||
| ENST00000644447.1:c.1494A>C | ENSP00000496282.1:p.Ala498= | |
| ENST00000644484.1:c.*1393A>C | ENSP00000493558.1:n.*1393A>C | |
| ENST00000644542.1:c.*2843A>C | ENSP00000495532.1:n.*2843A>C | |
| ENST00000644675.1:c.*1310A>C | ENSP00000494567.1:n.*1310A>C | |
| ENST00000644757.1:c.*1423A>C | ENSP00000495085.1:n.*1423A>C | |
| ENST00000644772.1:c.3204A>C | ENSP00000494321.1:p.Ala1068= | |
| ENST00000645004.1:n.277A>C | ||
| ENST00000645076.1:c.2337A>C | ||
| ENST00000645417.1:c.304A>C | ||
| ENST00000645744.1:c.*1402A>C | ENSP00000494564.1:n.*1402A>C | |
| ENST00000645760.1:c.3413A>C | ||
| ENST00000645884.1:c.*275A>C | ENSP00000495516.1:n.*275A>C | |
| ENST00000646003.1:c.*1094A>C | ENSP00000495259.1:n.*1094A>C | |
| ENST00000646207.1:c.*1605A>C | ENSP00000495025.1:n.*1605A>C | |
| ENST00000646276.1:c.*1411A>C | ENSP00000496070.1:n.*1411A>C | |
| ENST00000646592.1:c.2444A>C | ||
| ENST00000646902.1:c.3135A>C | ENSP00000494101.1:p.Ala1045= | |
| ENST00000646993.1:c.*1534A>C | ENSP00000493720.1:n.*1534A>C | |
| ENST00000647013.1:c.3144A>C | ENSP00000496741.1:n.3144A>C | |
| ENST00000647015.1:c.2889A>C | ENSP00000495389.1:p.Ala963= | |
| ENST00000647086.1:c.*2868A>C | ENSP00000493677.1:n.*2868A>C | |
| ENST00000647158.1:c.*1279A>C | ENSP00000495744.1:n.*1279A>C | |
| ENST00000302539.8:c.3141A>C | ENSP00000303960.4:p.Ala1047= | |
| ENST00000389817.7:c.3138A>C | ENSP00000374467.3:p.Ala1046= | |
| ENST00000524561.1:n.270A>C | ||
| ENST00000526921.5:n.822A>C | ||
| ENST00000527905.5:c.*14A>C | ENSP00000431653.1:n.*14A>C | |
| ENST00000529967.5:n.807A>C | ||
| NM_000352.4:c.3138A>C | NP_000343.2:p.Ala1046= | |
| NM_001287174.1:c.3141A>C | NP_001274103.1:p.Ala1047= | |
| XM_011520331.1:c.3138A>C | XP_011518633.1:p.Ala1046= | |
| XM_011520332.1:c.3141A>C | XP_011518634.1:p.Ala1047= | |
| XM_011520333.1:c.1638A>C | XP_011518635.1:p.Ala546= | |
| XR_930890.1:n.3204A>C | ||
| XR_930891.1:n.3204A>C | ||
| XR_930892.1:n.3104A>C | ||
| XR_930893.1:n.3101A>C | ||
| NM_001351295.1:c.3204A>C | NP_001338224.1:p.Ala1068= | |
| NM_001351296.1:c.3138A>C | NP_001338225.1:p.Ala1046= | |
| NM_001351297.1:c.3135A>C | NP_001338226.1:p.Ala1045= | |
| NR_147094.1:n.3287A>C | ||
| XM_017018197.2:c.3207A>C | XP_016873686.1:p.Ala1069= | |
| XM_017018199.1:c.3204A>C | XP_016873688.1:p.Ala1068= | |
| XM_017018201.2:c.3207A>C | XP_016873690.1:p.Ala1069= | |
| XM_017018202.1:c.1704A>C | XP_016873691.1:p.Ala568= | |
| XM_017018204.1:c.1095A>C | XP_016873693.1:p.Ala365= | |
| XM_024448668.1:c.1506A>C | XP_024304436.1:p.Ala502= | |
| XR_001747945.2:n.3279A>C | ||
| XR_001747946.2:n.3210A>C | ||
| XR_002957189.1:n.3359A>C | ||
| NM_000352.6:c.3138A>C MANE Select | NP_000343.2:p.Ala1046= | |
| NM_001287174.2:c.3141A>C | NP_001274103.1:p.Ala1047= | |
| NM_001351295.2:c.3204A>C | NP_001338224.1:p.Ala1068= | |
| NM_001351296.2:c.3138A>C | NP_001338225.1:p.Ala1046= | |
| NM_001351297.2:c.3135A>C | NP_001338226.1:p.Ala1045= | |
| NR_147094.2:n.3287A>C | ||
| NM_001287174.3:c.3141A>C | NP_001274103.1:p.Ala1047= |