Linked Data
dbSNP Id:
rs138722795
ExAC:
11:17428492 C / T
gnomAD v2:
11-17428492-C-T
gnomAD v4:
11-17406945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406945C>T , CM000673.2:g.17406945C>T | GRCh38 |
| NC_000011.9:g.17428492C>T , CM000673.1:g.17428492C>T | GRCh37 |
| NC_000011.8:g.17385068C>T | NCBI36 |
| NG_008867.1:g.74958G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.2674G>A | ||
| ENST00000529967.6:n.1444G>A | ||
| ENST00000532220.2:n.837G>A | ||
| ENST00000642611.2:n.3174G>A | ||
| ENST00000645004.2:n.604G>A | ||
| ENST00000682051.1:n.3121G>A | ||
| ENST00000682110.1:n.3174G>A | ||
| ENST00000682140.1:c.3102G>A | ENSP00000507829.1:p.Lys1034= | |
| ENST00000682185.1:n.4410G>A | ||
| ENST00000682204.1:c.*1243G>A | ENSP00000507094.1:n.*1243G>A | |
| ENST00000682215.1:n.3171G>A | ||
| ENST00000682288.1:c.*1536G>A | ENSP00000507506.1:n.*1536G>A | |
| ENST00000682442.1:n.3295G>A | ||
| ENST00000682528.1:n.3251G>A | ||
| ENST00000682673.1:n.3118G>A | ||
| ENST00000682805.1:n.3171G>A | ||
| ENST00000682965.1:c.3102G>A | ENSP00000508229.1:p.Lys1034= | |
| ENST00000683093.1:n.3273G>A | ||
| ENST00000683136.1:c.3102G>A | ENSP00000507768.1:p.Lys1034= | |
| ENST00000683153.1:n.3330G>A | ||
| ENST00000683365.1:n.3276G>A | ||
| ENST00000683377.1:n.3174G>A | ||
| ENST00000683456.1:c.*242G>A | ENSP00000508318.1:n.*242G>A | |
| ENST00000683522.1:n.3174G>A | ||
| ENST00000683562.1:c.*1274G>A | ENSP00000508265.1:n.*1274G>A | |
| ENST00000683693.1:n.3251G>A | ||
| ENST00000683725.1:c.3105G>A | ENSP00000507496.1:p.Lys1035= | |
| ENST00000684010.1:n.3169G>A | ||
| ENST00000684157.1:n.3174G>A | ||
| ENST00000684253.1:n.3077G>A | ||
| ENST00000684288.1:c.*1277G>A | ENSP00000507143.1:n.*1277G>A | |
| ENST00000684313.1:n.2606G>A | ||
| ENST00000684332.1:n.3247G>A | ||
| ENST00000684371.1:n.3280G>A | ||
| ENST00000684404.1:n.3217G>A | ||
| ENST00000684442.1:n.3174G>A | ||
| ENST00000684555.1:c.*1317G>A | ENSP00000507705.1:n.*1317G>A | |
| ENST00000684571.1:c.2946G>A | ENSP00000506935.1:p.Lys982= | |
| ENST00000684593.1:c.*2810G>A | ENSP00000507005.1:n.*2810G>A | |
| ENST00000684711.1:c.*1501G>A | ENSP00000506841.1:n.*1501G>A | |
| ENST00000302539.9:c.3108G>A | ENSP00000303960.4:p.Lys1036= | |
| ENST00000389817.8:c.3105G>A MANE Select | ENSP00000374467.4:p.Lys1035= | |
| ENST00000642271.1:c.3102G>A | ENSP00000493749.1:p.Lys1034= | |
| ENST00000642579.1:c.1189G>A | ||
| ENST00000642611.1:n.3059G>A | ||
| ENST00000642902.1:c.2887G>A | ||
| ENST00000643260.1:c.3105G>A | ENSP00000494450.1:p.Lys1035= | |
| ENST00000643562.1:c.*1081G>A | ENSP00000496124.1:n.*1081G>A | |
| ENST00000643925.1:c.1229G>A | ||
| ENST00000644447.1:c.1461G>A | ENSP00000496282.1:p.Lys487= | |
| ENST00000644484.1:c.*1360G>A | ENSP00000493558.1:n.*1360G>A | |
| ENST00000644542.1:c.*2810G>A | ENSP00000495532.1:n.*2810G>A | |
| ENST00000644675.1:c.*1277G>A | ENSP00000494567.1:n.*1277G>A | |
| ENST00000644757.1:c.*1390G>A | ENSP00000495085.1:n.*1390G>A | |
| ENST00000644772.1:c.3171G>A | ENSP00000494321.1:p.Lys1057= | |
| ENST00000645004.1:n.244G>A | ||
| ENST00000645076.1:c.2304G>A | ||
| ENST00000645417.1:c.271G>A | ||
| ENST00000645744.1:c.*1369G>A | ENSP00000494564.1:n.*1369G>A | |
| ENST00000645760.1:c.3380G>A | ||
| ENST00000645884.1:c.*242G>A | ENSP00000495516.1:n.*242G>A | |
| ENST00000646003.1:c.*1061G>A | ENSP00000495259.1:n.*1061G>A | |
| ENST00000646207.1:c.*1572G>A | ENSP00000495025.1:n.*1572G>A | |
| ENST00000646276.1:c.*1378G>A | ENSP00000496070.1:n.*1378G>A | |
| ENST00000646592.1:c.2411G>A | ||
| ENST00000646902.1:c.3102G>A | ENSP00000494101.1:p.Lys1034= | |
| ENST00000646993.1:c.*1501G>A | ENSP00000493720.1:n.*1501G>A | |
| ENST00000647013.1:c.3111G>A | ENSP00000496741.1:n.3111G>A | |
| ENST00000647015.1:c.2856G>A | ENSP00000495389.1:p.Lys952= | |
| ENST00000647086.1:c.*2835G>A | ENSP00000493677.1:n.*2835G>A | |
| ENST00000647158.1:c.*1246G>A | ENSP00000495744.1:n.*1246G>A | |
| ENST00000302539.8:c.3108G>A | ENSP00000303960.4:p.Lys1036= | |
| ENST00000389817.7:c.3105G>A | ENSP00000374467.3:p.Lys1035= | |
| ENST00000524561.1:n.237G>A | ||
| ENST00000526921.5:n.789G>A | ||
| ENST00000527905.5:c.2975G>A | ENSP00000431653.1:p.Ser992Asn | |
| ENST00000529967.5:n.774G>A | ||
| NM_000352.4:c.3105G>A | NP_000343.2:p.Lys1035= | |
| NM_001287174.1:c.3108G>A | NP_001274103.1:p.Lys1036= | |
| XM_011520331.1:c.3105G>A | XP_011518633.1:p.Lys1035= | |
| XM_011520332.1:c.3108G>A | XP_011518634.1:p.Lys1036= | |
| XM_011520333.1:c.1605G>A | XP_011518635.1:p.Lys535= | |
| XR_930890.1:n.3171G>A | ||
| XR_930891.1:n.3171G>A | ||
| XR_930892.1:n.3071G>A | ||
| XR_930893.1:n.3068G>A | ||
| NM_001351295.1:c.3171G>A | NP_001338224.1:p.Lys1057= | |
| NM_001351296.1:c.3105G>A | NP_001338225.1:p.Lys1035= | |
| NM_001351297.1:c.3102G>A | NP_001338226.1:p.Lys1034= | |
| NR_147094.1:n.3254G>A | ||
| XM_017018197.2:c.3174G>A | XP_016873686.1:p.Lys1058= | |
| XM_017018199.1:c.3171G>A | XP_016873688.1:p.Lys1057= | |
| XM_017018201.2:c.3174G>A | XP_016873690.1:p.Lys1058= | |
| XM_017018202.1:c.1671G>A | XP_016873691.1:p.Lys557= | |
| XM_017018204.1:c.1062G>A | XP_016873693.1:p.Lys354= | |
| XM_024448668.1:c.1473G>A | XP_024304436.1:p.Lys491= | |
| XR_001747945.2:n.3246G>A | ||
| XR_001747946.2:n.3177G>A | ||
| XR_002957189.1:n.3326G>A | ||
| NM_000352.6:c.3105G>A MANE Select | NP_000343.2:p.Lys1035= | |
| NM_001287174.2:c.3108G>A | NP_001274103.1:p.Lys1036= | |
| NM_001351295.2:c.3171G>A | NP_001338224.1:p.Lys1057= | |
| NM_001351296.2:c.3105G>A | NP_001338225.1:p.Lys1035= | |
| NM_001351297.2:c.3102G>A | NP_001338226.1:p.Lys1034= | |
| NR_147094.2:n.3254G>A | ||
| NM_001287174.3:c.3108G>A | NP_001274103.1:p.Lys1036= |