Linked Data
ClinVar Variation Id:
420149
dbSNP Id:
rs776005417
gnomAD v2:
6-110059618-G-A
gnomAD v3:
6-109738415-G-A
gnomAD v4:
6-109738415-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109738415G>A , CM000668.2:g.109738415G>A | GRCh38 |
| NC_000006.11:g.110059618G>A , CM000668.1:g.110059618G>A | GRCh37 |
| NC_000006.10:g.110166311G>A | NCBI36 |
| NG_007977.1:g.52195G>A , LRG_241:g.52195G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230124.8:c.737G>A MANE Select | ENSP00000230124.4:p.Trp246Ter | |
| ENST00000368941.2:c.646+3117G>A | ENSP00000357937.2:n.646+3117G>A | |
| ENST00000415980.2:c.-223-23676G>A | ENSP00000405660.2:n.-223-23676G>A | |
| ENST00000454215.6:c.737G>A | ENSP00000412156.2:p.Trp246Ter | |
| ENST00000674532.1:n.3933G>A | ||
| ENST00000674557.1:c.*169G>A | ENSP00000501608.1:n.*169G>A | |
| ENST00000674569.1:c.646+3117G>A | ENSP00000502769.1:n.646+3117G>A | |
| ENST00000674571.1:c.646+3117G>A | ENSP00000501633.1:n.646+3117G>A | |
| ENST00000674575.1:c.640+3117G>A | ENSP00000502276.1:n.640+3117G>A | |
| ENST00000674641.1:c.392G>A | ENSP00000501609.1:p.Trp131Ter | |
| ENST00000674644.1:c.-55+3117G>A | ENSP00000502201.1:n.-55+3117G>A | |
| ENST00000674649.1:c.*430G>A | ENSP00000501669.1:n.*430G>A | |
| ENST00000674657.1:c.*169G>A | ENSP00000502314.1:n.*169G>A | |
| ENST00000674744.1:c.731G>A | ENSP00000501661.1:p.Trp244Ter | |
| ENST00000674778.1:c.646+3117G>A | ENSP00000502742.1:n.646+3117G>A | |
| ENST00000674783.1:c.737G>A | ENSP00000502755.1:p.Trp246Ter | |
| ENST00000674830.1:n.708G>A | ||
| ENST00000674884.1:c.755G>A | ENSP00000502668.1:p.Trp252Ter | |
| ENST00000674930.1:c.*164+3117G>A | ENSP00000502657.1:n.*164+3117G>A | |
| ENST00000674933.1:c.506G>A | ENSP00000502376.1:p.Trp169Ter | |
| ENST00000674956.1:c.646+3117G>A | ENSP00000501904.1:n.646+3117G>A | |
| ENST00000675002.1:n.825G>A | ||
| ENST00000675004.1:c.*689G>A | ENSP00000501868.1:n.*689G>A | |
| ENST00000675009.1:c.*255G>A | ENSP00000502098.1:n.*255G>A | |
| ENST00000675096.1:c.737G>A | ENSP00000502116.1:p.Trp246Ter | |
| ENST00000675122.1:c.737G>A | ENSP00000501810.1:p.Trp246Ter | |
| ENST00000675153.1:c.737G>A | ENSP00000501682.1:p.Trp246Ter | |
| ENST00000675272.1:n.1643G>A | ||
| ENST00000675284.1:c.737G>A | ENSP00000502758.1:p.Trp246Ter | |
| ENST00000675311.1:c.*78+3117G>A | ENSP00000501961.1:n.*78+3117G>A | |
| ENST00000675426.1:c.*78+3117G>A | ENSP00000501819.1:n.*78+3117G>A | |
| ENST00000675523.1:c.506G>A | ENSP00000502384.1:p.Trp169Ter | |
| ENST00000675552.1:c.646+3117G>A | ENSP00000502197.1:n.646+3117G>A | |
| ENST00000675681.1:c.737G>A | ENSP00000502705.1:p.Trp246Ter | |
| ENST00000675714.1:c.737G>A | ENSP00000502561.1:p.Trp246Ter | |
| ENST00000675726.1:c.737G>A | ENSP00000502452.1:p.Trp246Ter | |
| ENST00000675772.1:c.737G>A | ENSP00000501678.1:p.Trp246Ter | |
| ENST00000675831.1:c.646+3117G>A | ENSP00000502382.1:n.646+3117G>A | |
| ENST00000675844.1:c.506G>A | ENSP00000502353.1:p.Trp169Ter | |
| ENST00000675847.1:n.861G>A | ||
| ENST00000675887.1:c.*340G>A | ENSP00000502123.1:n.*340G>A | |
| ENST00000675973.1:c.647-3029G>A | ENSP00000502407.1:n.647-3029G>A | |
| ENST00000675991.1:c.646+3117G>A | ENSP00000502162.1:n.646+3117G>A | |
| ENST00000675994.1:c.646+3117G>A | ENSP00000502419.1:n.646+3117G>A | |
| ENST00000676021.1:c.737G>A | ENSP00000502746.1:p.Trp246Ter | |
| ENST00000676037.1:c.737G>A | ENSP00000502181.1:p.Trp246Ter | |
| ENST00000676136.1:n.877G>A | ||
| ENST00000676435.1:c.737G>A | ENSP00000502614.1:p.Trp246Ter | |
| ENST00000676442.1:c.647-3029G>A | ENSP00000502595.1:n.647-3029G>A | |
| ENST00000230124.7:c.737G>A | ENSP00000230124.3:p.Trp246Ter | |
| ENST00000368941.1:c.415+3117G>A | ENSP00000357937.1:n.415+3117G>A | |
| ENST00000454215.5:c.674G>A | ENSP00000412156.1:p.Trp225Ter | |
| NM_014845.5:c.737G>A , LRG_241t1:c.737G>A | NP_055660.1:p.Trp246Ter | |
| XM_011536281.1:c.674G>A | XP_011534583.1:p.Trp225Ter | |
| XM_011536281.3:c.674G>A | XP_011534583.1:p.Trp225Ter | |
| XM_017011591.2:c.737G>A | XP_016867080.1:p.Trp246Ter | |
| XM_017011592.1:c.188G>A | XP_016867081.1:p.Trp63Ter | |
| XM_017011593.2:c.-55+3117G>A | XP_016867082.1:n.-55+3117G>A | |
| NM_014845.6:c.737G>A MANE Select | NP_055660.1:p.Trp246Ter |