Linked Data
ClinVar Variation Id:
254671
ClinVar RCV Id:
RCV000416491
RCV000688613
RCV001508193
RCV001095518
RCV001172960
RCV001154064
RCV003165682
dbSNP Id:
rs150301327
ExAC:
6:110106223 A / G
gnomAD v2:
6-110106223-A-G
gnomAD v3:
6-109785020-A-G
gnomAD v4:
6-109785020-A-G
PubMed:
PMID:28051077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109785020A>G , CM000668.2:g.109785020A>G | GRCh38 |
| NC_000006.11:g.110106223A>G , CM000668.1:g.110106223A>G | GRCh37 |
| NC_000006.10:g.110212916A>G | NCBI36 |
| NG_007977.1:g.98800A>G , LRG_241:g.98800A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.1940A>G MANE Select | ENSP00000230124.4:p.Tyr647Cys | |
| ENST00000415980.2:c.446A>G | ENSP00000405660.2:p.Tyr149Cys | |
| ENST00000674532.1:n.5136A>G | ||
| ENST00000674557.1:c.*1233A>G | ENSP00000501608.1:n.*1233A>G | |
| ENST00000674569.1:c.*1059A>G | ENSP00000502769.1:n.*1059A>G | |
| ENST00000674571.1:c.*1059A>G | ENSP00000501633.1:n.*1059A>G | |
| ENST00000674575.1:c.*1059A>G | ENSP00000502276.1:n.*1059A>G | |
| ENST00000674641.1:c.1595A>G | ENSP00000501609.1:p.Tyr532Cys | |
| ENST00000674644.1:c.1010A>G | ENSP00000502201.1:p.Tyr337Cys | |
| ENST00000674649.1:c.*1633A>G | ENSP00000501669.1:n.*1633A>G | |
| ENST00000674657.1:c.*1372A>G | ENSP00000502314.1:n.*1372A>G | |
| ENST00000674744.1:c.1934A>G | ENSP00000501661.1:p.Tyr645Cys | |
| ENST00000674778.1:c.*1059A>G | ENSP00000502742.1:n.*1059A>G | |
| ENST00000674783.1:c.*855A>G | ENSP00000502755.1:n.*855A>G | |
| ENST00000674884.1:c.1958A>G | ENSP00000502668.1:p.Tyr653Cys | |
| ENST00000674930.1:c.*1065A>G | ENSP00000502657.1:n.*1065A>G | |
| ENST00000674933.1:c.1709A>G | ENSP00000502376.1:p.Tyr570Cys | |
| ENST00000674956.1:c.*1154A>G | ENSP00000501904.1:n.*1154A>G | |
| ENST00000675004.1:c.*1892A>G | ENSP00000501868.1:n.*1892A>G | |
| ENST00000675009.1:c.*1324A>G | ENSP00000502098.1:n.*1324A>G | |
| ENST00000675096.1:c.1890-4574A>G | ENSP00000502116.1:n.1890-4574A>G | |
| ENST00000675122.1:c.1940A>G | ENSP00000501810.1:p.Tyr647Cys | |
| ENST00000675153.1:c.*657A>G | ENSP00000501682.1:n.*657A>G | |
| ENST00000675272.1:n.6238A>G | ||
| ENST00000675284.1:c.1940A>G | ENSP00000502758.1:p.Tyr647Cys | |
| ENST00000675301.1:n.597A>G | ||
| ENST00000675311.1:c.*1142A>G | ENSP00000501961.1:n.*1142A>G | |
| ENST00000675426.1:c.*1008A>G | ENSP00000501819.1:n.*1008A>G | |
| ENST00000675523.1:c.1709A>G | ENSP00000502384.1:p.Tyr570Cys | |
| ENST00000675552.1:c.*1059A>G | ENSP00000502197.1:n.*1059A>G | |
| ENST00000675714.1:c.1940A>G | ENSP00000502561.1:p.Tyr647Cys | |
| ENST00000675726.1:c.1940A>G | ENSP00000502452.1:p.Tyr647Cys | |
| ENST00000675772.1:c.1940A>G | ENSP00000501678.1:p.Tyr647Cys | |
| ENST00000675831.1:c.1547A>G | ENSP00000502382.1:p.Tyr516Cys | |
| ENST00000675849.1:n.1562A>G | ||
| ENST00000675879.1:c.669A>G | ||
| ENST00000675887.1:c.*1543A>G | ENSP00000502123.1:n.*1543A>G | |
| ENST00000675954.1:n.3273A>G | ||
| ENST00000675991.1:c.*1059A>G | ENSP00000502162.1:n.*1059A>G | |
| ENST00000675994.1:c.*920A>G | ENSP00000502419.1:n.*920A>G | |
| ENST00000676021.1:c.*518A>G | ENSP00000502746.1:n.*518A>G | |
| ENST00000676037.1:c.1940A>G | ENSP00000502181.1:p.Tyr647Cys | |
| ENST00000676136.1:n.2080A>G | ||
| ENST00000676442.1:c.1811A>G | ENSP00000502595.1:p.Tyr604Cys | |
| ENST00000230124.7:c.1940A>G | ENSP00000230124.3:p.Tyr647Cys | |
| ENST00000415980.1:c.357A>G | ||
| NM_014845.5:c.1940A>G , LRG_241t1:c.1940A>G | NP_055660.1:p.Tyr647Cys | |
| XM_011536281.1:c.1877A>G | XP_011534583.1:p.Tyr626Cys | |
| XM_011536281.3:c.1877A>G | XP_011534583.1:p.Tyr626Cys | |
| XM_017011591.2:c.1940A>G | XP_016867080.1:p.Tyr647Cys | |
| XM_017011592.1:c.1391A>G | XP_016867081.1:p.Tyr464Cys | |
| XM_017011593.2:c.1010A>G | XP_016867082.1:p.Tyr337Cys | |
| NM_014845.6:c.1940A>G MANE Select | NP_055660.1:p.Tyr647Cys |