Linked Data
dbSNP Id:
rs778659233
ExAC:
11:17434323 C / A
gnomAD v2:
11-17434323-C-A
gnomAD v4:
11-17412776-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17412776C>A , CM000673.2:g.17412776C>A | GRCh38 |
| NC_000011.9:g.17434323C>A , CM000673.1:g.17434323C>A | GRCh37 |
| NC_000011.8:g.17390899C>A | NCBI36 |
| NG_008867.1:g.69127G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2145-30G>T | ||
| ENST00000529967.6:n.735-30G>T | ||
| ENST00000642611.2:n.2545-30G>T | ||
| ENST00000682051.1:n.2492-30G>T | ||
| ENST00000682110.1:n.2545-30G>T | ||
| ENST00000682140.1:c.2473-30G>T | ENSP00000507829.1:n.2473-30G>T | |
| ENST00000682185.1:n.3781-30G>T | ||
| ENST00000682204.1:c.*614-30G>T | ENSP00000507094.1:n.*614-30G>T | |
| ENST00000682215.1:n.2542-30G>T | ||
| ENST00000682288.1:c.*907-30G>T | ENSP00000507506.1:n.*907-30G>T | |
| ENST00000682442.1:n.2666-30G>T | ||
| ENST00000682528.1:n.2542-30G>T | ||
| ENST00000682673.1:n.2489-30G>T | ||
| ENST00000682805.1:n.2542-30G>T | ||
| ENST00000682965.1:c.2473-30G>T | ENSP00000508229.1:n.2473-30G>T | |
| ENST00000683093.1:n.2644-30G>T | ||
| ENST00000683136.1:c.2473-30G>T | ENSP00000507768.1:n.2473-30G>T | |
| ENST00000683153.1:n.2701-30G>T | ||
| ENST00000683365.1:n.2647-30G>T | ||
| ENST00000683377.1:n.2545-30G>T | ||
| ENST00000683456.1:c.2476-30G>T | ENSP00000508318.1:n.2476-30G>T | |
| ENST00000683522.1:n.2545-30G>T | ||
| ENST00000683562.1:c.*645-30G>T | ENSP00000508265.1:n.*645-30G>T | |
| ENST00000683693.1:n.2542-30G>T | ||
| ENST00000683725.1:c.2476-30G>T | ENSP00000507496.1:n.2476-30G>T | |
| ENST00000684010.1:n.2460-30G>T | ||
| ENST00000684157.1:n.2545-30G>T | ||
| ENST00000684253.1:n.2448-30G>T | ||
| ENST00000684288.1:c.*648-30G>T | ENSP00000507143.1:n.*648-30G>T | |
| ENST00000684313.1:n.1977-30G>T | ||
| ENST00000684332.1:n.2618-30G>T | ||
| ENST00000684371.1:n.2651-30G>T | ||
| ENST00000684404.1:n.2542-30G>T | ||
| ENST00000684442.1:n.2545-30G>T | ||
| ENST00000684555.1:c.*688-30G>T | ENSP00000507705.1:n.*688-30G>T | |
| ENST00000684571.1:c.2317-30G>T | ENSP00000506935.1:n.2317-30G>T | |
| ENST00000684593.1:c.*2181-30G>T | ENSP00000507005.1:n.*2181-30G>T | |
| ENST00000684711.1:c.*872-30G>T | ENSP00000506841.1:n.*872-30G>T | |
| ENST00000302539.9:c.2479-30G>T | ENSP00000303960.4:n.2479-30G>T | |
| ENST00000389817.8:c.2476-30G>T MANE Select | ENSP00000374467.4:n.2476-30G>T | |
| ENST00000642271.1:c.2473-30G>T | ENSP00000493749.1:n.2473-30G>T | |
| ENST00000642579.1:c.560-30G>T | ||
| ENST00000642611.1:n.2430-30G>T | ||
| ENST00000642902.1:c.2311-30G>T | ||
| ENST00000643260.1:c.2476-30G>T | ENSP00000494450.1:n.2476-30G>T | |
| ENST00000643562.1:c.*452-30G>T | ENSP00000496124.1:n.*452-30G>T | |
| ENST00000643925.1:c.520-30G>T | ||
| ENST00000644447.1:c.832-30G>T | ENSP00000496282.1:n.832-30G>T | |
| ENST00000644472.1:c.*837-30G>T | ENSP00000495378.1:n.*837-30G>T | |
| ENST00000644484.1:c.*685-30G>T | ENSP00000493558.1:n.*685-30G>T | |
| ENST00000644542.1:c.*2181-30G>T | ENSP00000495532.1:n.*2181-30G>T | |
| ENST00000644675.1:c.*648-30G>T | ENSP00000494567.1:n.*648-30G>T | |
| ENST00000644757.1:c.*781-30G>T | ENSP00000495085.1:n.*781-30G>T | |
| ENST00000644772.1:c.2542-30G>T | ENSP00000494321.1:n.2542-30G>T | |
| ENST00000645076.1:c.1728-30G>T | ||
| ENST00000645744.1:c.*840-30G>T | ENSP00000494564.1:n.*840-30G>T | |
| ENST00000645760.1:c.2751-30G>T | ||
| ENST00000645884.1:c.2476-30G>T | ENSP00000495516.1:n.2476-30G>T | |
| ENST00000646003.1:c.*532-30G>T | ENSP00000495259.1:n.*532-30G>T | |
| ENST00000646207.1:c.*840-30G>T | ENSP00000495025.1:n.*840-30G>T | |
| ENST00000646276.1:c.*749-30G>T | ENSP00000496070.1:n.*749-30G>T | |
| ENST00000646592.1:c.1702-30G>T | ||
| ENST00000646902.1:c.2473-30G>T | ENSP00000494101.1:n.2473-30G>T | |
| ENST00000646993.1:c.*872-30G>T | ENSP00000493720.1:n.*872-30G>T | |
| ENST00000647013.1:c.2482-30G>T | ENSP00000496741.1:n.2482-30G>T | |
| ENST00000647015.1:c.2227-30G>T | ENSP00000495389.1:n.2227-30G>T | |
| ENST00000647086.1:c.*2206-30G>T | ENSP00000493677.1:n.*2206-30G>T | |
| ENST00000647158.1:c.*617-30G>T | ENSP00000495744.1:n.*617-30G>T | |
| ENST00000302539.8:c.2479-30G>T | ENSP00000303960.4:n.2479-30G>T | |
| ENST00000389817.7:c.2476-30G>T | ENSP00000374467.3:n.2476-30G>T | |
| ENST00000526921.5:n.160-30G>T | ||
| ENST00000527905.5:c.2446-30G>T | ENSP00000431653.1:n.2446-30G>T | |
| ENST00000529967.5:n.145-30G>T | ||
| ENST00000530147.5:n.59-30G>T | ||
| ENST00000531911.1:n.590-30G>T | ||
| NM_000352.4:c.2476-30G>T | NP_000343.2:n.2476-30G>T | |
| NM_001287174.1:c.2479-30G>T | NP_001274103.1:n.2479-30G>T | |
| XM_011520331.1:c.2476-30G>T | XP_011518633.1:n.2476-30G>T | |
| XM_011520332.1:c.2479-30G>T | XP_011518634.1:n.2479-30G>T | |
| XM_011520333.1:c.976-30G>T | XP_011518635.1:n.976-30G>T | |
| XM_011520334.1:c.2479-30G>T | XP_011518636.1:n.2479-30G>T | |
| XR_930890.1:n.2542-30G>T | ||
| XR_930891.1:n.2542-30G>T | ||
| XR_930892.1:n.2542-30G>T | ||
| XR_930893.1:n.2539-30G>T | ||
| NM_001351295.1:c.2542-30G>T | NP_001338224.1:n.2542-30G>T | |
| NM_001351296.1:c.2476-30G>T | NP_001338225.1:n.2476-30G>T | |
| NM_001351297.1:c.2473-30G>T | NP_001338226.1:n.2473-30G>T | |
| NR_147094.1:n.2545-30G>T | ||
| XM_017018197.2:c.2545-30G>T | XP_016873686.1:n.2545-30G>T | |
| XM_017018199.1:c.2542-30G>T | XP_016873688.1:n.2542-30G>T | |
| XM_017018201.2:c.2545-30G>T | XP_016873690.1:n.2545-30G>T | |
| XM_017018202.1:c.1042-30G>T | XP_016873691.1:n.1042-30G>T | |
| XM_017018204.1:c.433-30G>T | XP_016873693.1:n.433-30G>T | |
| XM_024448668.1:c.844-30G>T | XP_024304436.1:n.844-30G>T | |
| XR_001747945.2:n.2617-30G>T | ||
| XR_001747946.2:n.2548-30G>T | ||
| XR_002957189.1:n.2617-30G>T | ||
| NM_000352.6:c.2476-30G>T MANE Select | NP_000343.2:n.2476-30G>T | |
| NM_001287174.2:c.2479-30G>T | NP_001274103.1:n.2479-30G>T | |
| NM_001351295.2:c.2542-30G>T | NP_001338224.1:n.2542-30G>T | |
| NM_001351296.2:c.2476-30G>T | NP_001338225.1:n.2476-30G>T | |
| NM_001351297.2:c.2473-30G>T | NP_001338226.1:n.2473-30G>T | |
| NR_147094.2:n.2545-30G>T | ||
| NM_001287174.3:c.2479-30G>T | NP_001274103.1:n.2479-30G>T |