Linked Data
ClinVar Variation Id:
407082
ClinVar RCV Id:
RCV000462434
RCV000662128
RCV000662129
RCV000662127
RCV001573278
RCV000662126
RCV002411445
RCV001662424
RCV003970280
dbSNP Id:
rs138048706
ExAC:
6:110062705 A / T
gnomAD v2:
6-110062705-A-T
gnomAD v3:
6-109741502-A-T
gnomAD v4:
6-109741502-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109741502A>T , CM000668.2:g.109741502A>T | GRCh38 |
| NC_000006.11:g.110062705A>T , CM000668.1:g.110062705A>T | GRCh37 |
| NC_000006.10:g.110169398A>T | NCBI36 |
| NG_007977.1:g.55282A>T , LRG_241:g.55282A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.834A>T MANE Select | ENSP00000230124.4:p.Lys278Asn | |
| ENST00000368941.2:c.647-1608A>T | ENSP00000357937.2:n.647-1608A>T | |
| ENST00000415980.2:c.-223-20589A>T | ENSP00000405660.2:n.-223-20589A>T | |
| ENST00000454215.6:c.810A>T | ENSP00000412156.2:p.Lys270Asn | |
| ENST00000674532.1:n.4030A>T | ||
| ENST00000674557.1:c.*266A>T | ENSP00000501608.1:n.*266A>T | |
| ENST00000674569.1:c.647-1608A>T | ENSP00000502769.1:n.647-1608A>T | |
| ENST00000674571.1:c.647-1608A>T | ENSP00000501633.1:n.647-1608A>T | |
| ENST00000674575.1:c.641-1608A>T | ENSP00000502276.1:n.641-1608A>T | |
| ENST00000674641.1:c.489A>T | ENSP00000501609.1:p.Lys163Asn | |
| ENST00000674644.1:c.-54-1608A>T | ENSP00000502201.1:n.-54-1608A>T | |
| ENST00000674649.1:c.*527A>T | ENSP00000501669.1:n.*527A>T | |
| ENST00000674657.1:c.*266A>T | ENSP00000502314.1:n.*266A>T | |
| ENST00000674744.1:c.828A>T | ENSP00000501661.1:p.Lys276Asn | |
| ENST00000674778.1:c.647-1608A>T | ENSP00000502742.1:n.647-1608A>T | |
| ENST00000674783.1:c.834A>T | ENSP00000502755.1:p.Lys278Asn | |
| ENST00000674830.1:n.805A>T | ||
| ENST00000674884.1:c.852A>T | ENSP00000502668.1:p.Lys284Asn | |
| ENST00000674930.1:c.*165-2173A>T | ENSP00000502657.1:n.*165-2173A>T | |
| ENST00000674933.1:c.603A>T | ENSP00000502376.1:p.Lys201Asn | |
| ENST00000674956.1:c.647-1608A>T | ENSP00000501904.1:n.647-1608A>T | |
| ENST00000675004.1:c.*786A>T | ENSP00000501868.1:n.*786A>T | |
| ENST00000675009.1:c.*352A>T | ENSP00000502098.1:n.*352A>T | |
| ENST00000675096.1:c.834A>T | ENSP00000502116.1:p.Lys278Asn | |
| ENST00000675122.1:c.834A>T | ENSP00000501810.1:p.Lys278Asn | |
| ENST00000675153.1:c.834A>T | ENSP00000501682.1:p.Lys278Asn | |
| ENST00000675272.1:n.4730A>T | ||
| ENST00000675284.1:c.834A>T | ENSP00000502758.1:p.Lys278Asn | |
| ENST00000675311.1:c.*79-1608A>T | ENSP00000501961.1:n.*79-1608A>T | |
| ENST00000675426.1:c.*79-1608A>T | ENSP00000501819.1:n.*79-1608A>T | |
| ENST00000675523.1:c.603A>T | ENSP00000502384.1:p.Lys201Asn | |
| ENST00000675552.1:c.647-1608A>T | ENSP00000502197.1:n.647-1608A>T | |
| ENST00000675681.1:c.834A>T | ENSP00000502705.1:p.Lys278Asn | |
| ENST00000675714.1:c.834A>T | ENSP00000502561.1:p.Lys278Asn | |
| ENST00000675726.1:c.834A>T | ENSP00000502452.1:p.Lys278Asn | |
| ENST00000675772.1:c.834A>T | ENSP00000501678.1:p.Lys278Asn | |
| ENST00000675831.1:c.647-2173A>T | ENSP00000502382.1:n.647-2173A>T | |
| ENST00000675847.1:n.958A>T | ||
| ENST00000675887.1:c.*437A>T | ENSP00000502123.1:n.*437A>T | |
| ENST00000675973.1:c.705A>T | ENSP00000502407.1:p.Lys235Asn | |
| ENST00000675991.1:c.647-1608A>T | ENSP00000502162.1:n.647-1608A>T | |
| ENST00000675994.1:c.647-1608A>T | ENSP00000502419.1:n.647-1608A>T | |
| ENST00000676021.1:c.834A>T | ENSP00000502746.1:p.Lys278Asn | |
| ENST00000676037.1:c.834A>T | ENSP00000502181.1:p.Lys278Asn | |
| ENST00000676136.1:n.974A>T | ||
| ENST00000676435.1:c.834A>T | ENSP00000502614.1:p.Lys278Asn | |
| ENST00000676442.1:c.705A>T | ENSP00000502595.1:p.Lys235Asn | |
| ENST00000230124.7:c.834A>T | ENSP00000230124.3:p.Lys278Asn | |
| ENST00000368941.1:c.416-1608A>T | ENSP00000357937.1:n.416-1608A>T | |
| NM_014845.5:c.834A>T , LRG_241t1:c.834A>T | NP_055660.1:p.Lys278Asn | |
| XM_011536281.1:c.771A>T | XP_011534583.1:p.Lys257Asn | |
| XM_011536281.3:c.771A>T | XP_011534583.1:p.Lys257Asn | |
| XM_017011591.2:c.834A>T | XP_016867080.1:p.Lys278Asn | |
| XM_017011592.1:c.285A>T | XP_016867081.1:p.Lys95Asn | |
| XM_017011593.2:c.-54-1608A>T | XP_016867082.1:n.-54-1608A>T | |
| NM_014845.6:c.834A>T MANE Select | NP_055660.1:p.Lys278Asn |