Linked Data
ClinVar Variation Id:
371626
dbSNP Id:
rs1057517420
gnomAD v3:
11-17408518-C-G
gnomAD v4:
11-17408518-C-G
PubMed:
PMID:23275527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17408518C>G , CM000673.2:g.17408518C>G | GRCh38 |
| NC_000011.9:g.17430065C>G , CM000673.1:g.17430065C>G | GRCh37 |
| NC_000011.8:g.17386641C>G | NCBI36 |
| NG_008867.1:g.73385G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.2364-1G>C | ||
| ENST00000529967.6:n.954-1G>C | ||
| ENST00000532220.2:n.426G>C | ||
| ENST00000642611.2:n.2764-1G>C | ||
| ENST00000682051.1:n.2711-1G>C | ||
| ENST00000682110.1:n.2764-1G>C | ||
| ENST00000682140.1:c.2692-1G>C | ENSP00000507829.1:n.2692-1G>C | |
| ENST00000682185.1:n.4000-1G>C | ||
| ENST00000682204.1:c.*833-1G>C | ENSP00000507094.1:n.*833-1G>C | |
| ENST00000682215.1:n.2761-1G>C | ||
| ENST00000682288.1:c.*1126-1G>C | ENSP00000507506.1:n.*1126-1G>C | |
| ENST00000682442.1:n.2885-1G>C | ||
| ENST00000682528.1:n.2761-1G>C | ||
| ENST00000682673.1:n.2708-1G>C | ||
| ENST00000682805.1:n.2761-1G>C | ||
| ENST00000682965.1:c.2692-1G>C | ENSP00000508229.1:n.2692-1G>C | |
| ENST00000683093.1:n.2863-1G>C | ||
| ENST00000683136.1:c.2692-1G>C | ENSP00000507768.1:n.2692-1G>C | |
| ENST00000683153.1:n.2920-1G>C | ||
| ENST00000683365.1:n.2866-1G>C | ||
| ENST00000683377.1:n.2764-1G>C | ||
| ENST00000683456.1:c.2695-1G>C | ENSP00000508318.1:n.2695-1G>C | |
| ENST00000683522.1:n.2764-1G>C | ||
| ENST00000683562.1:c.*864-1G>C | ENSP00000508265.1:n.*864-1G>C | |
| ENST00000683693.1:n.2761-1G>C | ||
| ENST00000683725.1:c.2695-1G>C | ENSP00000507496.1:n.2695-1G>C | |
| ENST00000684010.1:n.2679-1G>C | ||
| ENST00000684157.1:n.2764-1G>C | ||
| ENST00000684253.1:n.2667-1G>C | ||
| ENST00000684288.1:c.*867-1G>C | ENSP00000507143.1:n.*867-1G>C | |
| ENST00000684313.1:n.2196-1G>C | ||
| ENST00000684332.1:n.2837-1G>C | ||
| ENST00000684371.1:n.2870-1G>C | ||
| ENST00000684404.1:n.2761-1G>C | ||
| ENST00000684442.1:n.2764-1G>C | ||
| ENST00000684555.1:c.*907-1G>C | ENSP00000507705.1:n.*907-1G>C | |
| ENST00000684571.1:c.2536-1G>C | ENSP00000506935.1:n.2536-1G>C | |
| ENST00000684593.1:c.*2400-1G>C | ENSP00000507005.1:n.*2400-1G>C | |
| ENST00000684711.1:c.*1091-1G>C | ENSP00000506841.1:n.*1091-1G>C | |
| ENST00000302539.9:c.2698-1G>C | ENSP00000303960.4:n.2698-1G>C | |
| ENST00000389817.8:c.2695-1G>C MANE Select | ENSP00000374467.4:n.2695-1G>C | |
| ENST00000642271.1:c.2692-1G>C | ENSP00000493749.1:n.2692-1G>C | |
| ENST00000642579.1:c.779-1G>C | ||
| ENST00000642611.1:n.2649-1G>C | ||
| ENST00000642902.1:c.2530-1G>C | ||
| ENST00000643260.1:c.2695-1G>C | ENSP00000494450.1:n.2695-1G>C | |
| ENST00000643562.1:c.*671-1G>C | ENSP00000496124.1:n.*671-1G>C | |
| ENST00000643925.1:c.739-1G>C | ||
| ENST00000644447.1:c.1051-1G>C | ENSP00000496282.1:n.1051-1G>C | |
| ENST00000644472.1:c.*1056-1G>C | ENSP00000495378.1:n.*1056-1G>C | |
| ENST00000644484.1:c.*904-1G>C | ENSP00000493558.1:n.*904-1G>C | |
| ENST00000644542.1:c.*2400-1G>C | ENSP00000495532.1:n.*2400-1G>C | |
| ENST00000644675.1:c.*867-1G>C | ENSP00000494567.1:n.*867-1G>C | |
| ENST00000644757.1:c.*1000-1G>C | ENSP00000495085.1:n.*1000-1G>C | |
| ENST00000644772.1:c.2761-1G>C | ENSP00000494321.1:n.2761-1G>C | |
| ENST00000645076.1:c.1947-1G>C | ||
| ENST00000645744.1:c.*1059-1G>C | ENSP00000494564.1:n.*1059-1G>C | |
| ENST00000645760.1:c.2970-1G>C | ||
| ENST00000645884.1:c.2695-1G>C | ENSP00000495516.1:n.2695-1G>C | |
| ENST00000646003.1:c.*751-1G>C | ENSP00000495259.1:n.*751-1G>C | |
| ENST00000646207.1:c.*1059-1G>C | ENSP00000495025.1:n.*1059-1G>C | |
| ENST00000646276.1:c.*968-1G>C | ENSP00000496070.1:n.*968-1G>C | |
| ENST00000646592.1:c.1921-1G>C | ||
| ENST00000646902.1:c.2692-1G>C | ENSP00000494101.1:n.2692-1G>C | |
| ENST00000646993.1:c.*1091-1G>C | ENSP00000493720.1:n.*1091-1G>C | |
| ENST00000647013.1:c.2701-1G>C | ENSP00000496741.1:n.2701-1G>C | |
| ENST00000647015.1:c.2446-1G>C | ENSP00000495389.1:n.2446-1G>C | |
| ENST00000647086.1:c.*2425-1G>C | ENSP00000493677.1:n.*2425-1G>C | |
| ENST00000647158.1:c.*836-1G>C | ENSP00000495744.1:n.*836-1G>C | |
| ENST00000302539.8:c.2698-1G>C | ENSP00000303960.4:n.2698-1G>C | |
| ENST00000389817.7:c.2695-1G>C | ENSP00000374467.3:n.2695-1G>C | |
| ENST00000526921.5:n.379-1G>C | ||
| ENST00000527905.5:c.2665-1G>C | ENSP00000431653.1:n.2665-1G>C | |
| ENST00000529967.5:n.364-1G>C | ||
| NM_000352.4:c.2695-1G>C | NP_000343.2:n.2695-1G>C | |
| NM_001287174.1:c.2698-1G>C | NP_001274103.1:n.2698-1G>C | |
| XM_011520331.1:c.2695-1G>C | XP_011518633.1:n.2695-1G>C | |
| XM_011520332.1:c.2698-1G>C | XP_011518634.1:n.2698-1G>C | |
| XM_011520333.1:c.1195-1G>C | XP_011518635.1:n.1195-1G>C | |
| XM_011520334.1:c.2698-1G>C | XP_011518636.1:n.2698-1G>C | |
| XR_930890.1:n.2761-1G>C | ||
| XR_930891.1:n.2761-1G>C | ||
| XR_930892.1:n.2761-1G>C | ||
| XR_930893.1:n.2758-1G>C | ||
| NM_001351295.1:c.2761-1G>C | NP_001338224.1:n.2761-1G>C | |
| NM_001351296.1:c.2695-1G>C | NP_001338225.1:n.2695-1G>C | |
| NM_001351297.1:c.2692-1G>C | NP_001338226.1:n.2692-1G>C | |
| NR_147094.1:n.2764-1G>C | ||
| XM_017018197.2:c.2764-1G>C | XP_016873686.1:n.2764-1G>C | |
| XM_017018199.1:c.2761-1G>C | XP_016873688.1:n.2761-1G>C | |
| XM_017018201.2:c.2764-1G>C | XP_016873690.1:n.2764-1G>C | |
| XM_017018202.1:c.1261-1G>C | XP_016873691.1:n.1261-1G>C | |
| XM_017018204.1:c.652-1G>C | XP_016873693.1:n.652-1G>C | |
| XM_024448668.1:c.1063-1G>C | XP_024304436.1:n.1063-1G>C | |
| XR_001747945.2:n.2836-1G>C | ||
| XR_001747946.2:n.2767-1G>C | ||
| XR_002957189.1:n.2836-1G>C | ||
| NM_000352.6:c.2695-1G>C MANE Select | NP_000343.2:n.2695-1G>C | |
| NM_001287174.2:c.2698-1G>C | NP_001274103.1:n.2698-1G>C | |
| NM_001351295.2:c.2761-1G>C | NP_001338224.1:n.2761-1G>C | |
| NM_001351296.2:c.2695-1G>C | NP_001338225.1:n.2695-1G>C | |
| NM_001351297.2:c.2692-1G>C | NP_001338226.1:n.2692-1G>C | |
| NR_147094.2:n.2764-1G>C | ||
| NM_001287174.3:c.2698-1G>C | NP_001274103.1:n.2698-1G>C |