Linked Data
ClinVar Variation Id:
646021
ClinVar RCV Id:
RCV000800225
dbSNP Id:
rs1210628894
gnomAD v2:
5-161580360-T-TA
gnomAD v4:
5-162153354-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153355dup , CM000667.2:g.162153355dup | GRCh38 |
| NC_000005.9:g.161580361dup , CM000667.1:g.161580361dup | GRCh37 |
| NC_000005.8:g.161512939dup | NCBI36 |
| NG_009290.1:g.90714dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1416dup | ||
| ENST00000361925.9:c.1511dup | ENSP00000354651.5:p.Tyr504Ter | |
| ENST00000523372.2:c.1474dup | ||
| ENST00000638253.1:n.669dup | ||
| ENST00000638552.1:c.1106dup | ENSP00000491763.1:p.Tyr369Ter | |
| ENST00000638660.1:c.1130dup | ENSP00000492869.1:p.Tyr377Ter | |
| ENST00000638772.1:c.*4012dup | ENSP00000491557.1:n.*4012dup | |
| ENST00000638877.1:c.1292dup | ||
| ENST00000639046.1:c.782dup | ENSP00000492659.1:p.Tyr261Ter | |
| ENST00000639111.2:c.1391dup | ENSP00000492125.2:p.Tyr464Ter | |
| ENST00000639213.2:c.1415dup MANE Select | ENSP00000491909.2:p.Tyr472Ter | |
| ENST00000639278.1:c.2078dup | ENSP00000491958.1:n.2078dup | |
| ENST00000639384.1:c.*1596dup | ENSP00000491240.1:n.*1596dup | |
| ENST00000639424.1:c.*615dup | ENSP00000491245.1:n.*615dup | |
| ENST00000639683.1:c.1349dup | ENSP00000492581.1:p.Tyr450Ter | |
| ENST00000639975.1:c.1325dup | ENSP00000492096.1:p.Tyr442Ter | |
| ENST00000640500.1:n.689dup | ||
| ENST00000640739.1:n.6362dup | ||
| ENST00000640910.1:c.853dup | ||
| ENST00000640985.1:c.1328dup | ENSP00000492293.1:p.Tyr443Ter | |
| ENST00000641017.1:c.1484dup | ENSP00000493461.1:p.Tyr495Ter | |
| ENST00000356592.7:c.1415dup | ENSP00000349000.3:p.Tyr472Ter | |
| ENST00000361925.8:c.1391dup | ENSP00000354651.4:p.Tyr464Ter | |
| ENST00000414552.6:c.1535dup | ENSP00000410732.2:p.Tyr512Ter | |
| ENST00000522990.5:c.*993dup | ENSP00000430732.1:n.*993dup | |
| ENST00000523372.1:c.1512dup | ENSP00000430124.1:n.1512dup | |
| NM_000816.3:c.1391dup | NP_000807.2:p.Tyr464Ter | |
| NM_198903.2:c.1535dup | NP_944493.2:p.Tyr512Ter | |
| NM_198904.2:c.1415dup | NP_944494.1:p.Tyr472Ter | |
| NM_001375339.1:c.1406dup | NP_001362268.1:p.Tyr469Ter | |
| NM_001375340.1:c.*249dup | NP_001362269.1:n.*249dup | |
| NM_001375341.1:c.1412dup | NP_001362270.1:p.Tyr471Ter | |
| NM_001375342.1:c.1388dup | NP_001362271.1:p.Tyr463Ter | |
| NM_001375343.1:c.1511dup | NP_001362272.1:p.Tyr504Ter | |
| NM_001375344.1:c.1454dup | NP_001362273.1:p.Tyr485Ter | |
| NM_001375345.1:c.1325dup | NP_001362274.1:p.Tyr442Ter | |
| NM_001375346.1:c.1349dup | NP_001362275.1:p.Tyr450Ter | |
| NM_001375347.1:c.1328dup | NP_001362276.1:p.Tyr443Ter | |
| NM_001375348.1:c.971dup | NP_001362277.1:p.Tyr324Ter | |
| NM_001375349.1:c.1106dup | NP_001362278.1:p.Tyr369Ter | |
| NM_001375350.1:c.995dup | NP_001362279.1:p.Tyr332Ter | |
| NM_198904.3:c.1415dup | NP_944494.1:p.Tyr472Ter | |
| NM_198904.4:c.1415dup MANE Select | NP_944494.1:p.Tyr472Ter |