Linked Data
ClinVar Variation Id:
465835
ClinVar RCV Id:
RCV000543058
dbSNP Id:
rs774018674
ExAC:
3:9982596 C / T
gnomAD v2:
3-9982596-C-T
gnomAD v3:
3-9940912-C-T
gnomAD v4:
3-9940912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9940912C>T , CM000665.2:g.9940912C>T | GRCh38 |
| NC_000003.11:g.9982596C>T , CM000665.1:g.9982596C>T | GRCh37 |
| NC_000003.10:g.9957596C>T | NCBI36 |
| NG_017069.1:g.12072C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696835.1:c.*1171C>T | ENSP00000512913.1:n.*1171C>T | |
| ENST00000696836.1:c.*1171C>T | ENSP00000512914.1:n.*1171C>T | |
| ENST00000696837.1:c.*2000C>T | ENSP00000512915.1:n.*2000C>T | |
| ENST00000696838.1:c.*1171C>T | ENSP00000512916.1:n.*1171C>T | |
| ENST00000696839.1:c.*1171C>T | ENSP00000512917.1:n.*1171C>T | |
| ENST00000707135.1:n.1221-278G>A (PRRT3) | ||
| ENST00000707136.1:n.1826-284G>A (PRRT3) | ||
| ENST00000397170.8:c.523C>T (CRELD1) | ENSP00000380355.4:p.Arg175Ter | |
| ENST00000414117.6:c.412C>T (CRELD1) | ENSP00000411021.2:p.Arg138Ter | |
| ENST00000467713.6:n.629C>T (CRELD1) | ||
| ENST00000489674.6:n.99C>T (CRELD1) | ||
| ENST00000673635.2:c.*189C>T (CRELD1) | ENSP00000501186.2:n.*189C>T | |
| ENST00000673677.2:c.523C>T (CRELD1) | ENSP00000500985.2:p.Arg175Ter | |
| ENST00000673737.2:c.523C>T (CRELD1) | ENSP00000501208.1:p.Arg175Ter | |
| ENST00000673935.2:c.523C>T (CRELD1) | ENSP00000500961.2:p.Arg175Ter | |
| ENST00000674067.2:c.*105C>T (CRELD1) | ENSP00000501009.2:n.*105C>T | |
| ENST00000681970.1:n.1189C>T | ||
| ENST00000682120.1:n.625C>T (CRELD1) | ||
| ENST00000682122.1:c.*171C>T | ENSP00000507036.1:n.*171C>T | |
| ENST00000682200.1:c.*14C>T (CRELD1) | ENSP00000508321.1:n.*14C>T | |
| ENST00000682318.1:c.*14C>T (CRELD1) | ENSP00000507946.1:n.*14C>T | |
| ENST00000682397.1:c.*14C>T (CRELD1) | ENSP00000507177.1:n.*14C>T | |
| ENST00000682403.1:c.*14C>T (CRELD1) | ENSP00000507865.1:n.*14C>T | |
| ENST00000682570.1:c.523C>T (CRELD1) | ENSP00000507973.1:p.Arg175Ter | |
| ENST00000682642.1:c.523C>T (CRELD1) | ENSP00000507251.1:p.Arg175Ter | |
| ENST00000682771.1:c.523C>T (CRELD1) | ENSP00000507114.1:p.Arg175Ter | |
| ENST00000682783.1:c.523C>T (CRELD1) | ENSP00000508358.1:p.Arg175Ter | |
| ENST00000682790.1:c.*97C>T (CRELD1) | ENSP00000507904.1:n.*97C>T | |
| ENST00000682798.1:n.1128C>T (CRELD1) | ||
| ENST00000682866.1:n.542C>T (CRELD1) | ||
| ENST00000682884.1:n.1017C>T (CRELD1) | ||
| ENST00000682906.1:c.*14C>T (CRELD1) | ENSP00000507674.1:n.*14C>T | |
| ENST00000682907.1:c.523C>T (CRELD1) | ENSP00000508209.1:p.Arg175Ter | |
| ENST00000682929.1:c.523C>T (CRELD1) | ENSP00000507930.1:p.Arg175Ter | |
| ENST00000682967.1:n.708C>T (CRELD1) | ||
| ENST00000683061.1:n.2106C>T | ||
| ENST00000683083.1:n.631C>T (CRELD1) | ||
| ENST00000683127.1:c.523C>T (CRELD1) | ENSP00000506906.1:p.Arg175Ter | |
| ENST00000683189.1:c.523C>T (CRELD1) | ENSP00000508018.1:p.Arg175Ter | |
| ENST00000683232.1:c.*14C>T (CRELD1) | ENSP00000506842.1:n.*14C>T | |
| ENST00000683239.1:n.653C>T (CRELD1) | ||
| ENST00000683279.1:n.602C>T (CRELD1) | ||
| ENST00000683301.1:c.*14C>T (CRELD1) | ENSP00000507718.1:n.*14C>T | |
| ENST00000683316.1:c.523C>T (CRELD1) | ENSP00000507076.1:p.Arg175Ter | |
| ENST00000683388.1:n.2627C>T (CRELD1) | ||
| ENST00000683467.1:n.745C>T (CRELD1) | ||
| ENST00000683484.1:c.*171C>T | ENSP00000507040.1:n.*171C>T | |
| ENST00000683547.1:c.523C>T (CRELD1) | ENSP00000507258.1:p.Arg175Ter | |
| ENST00000683601.1:c.523C>T (CRELD1) | ENSP00000507737.1:p.Arg175Ter | |
| ENST00000683603.1:c.523C>T (CRELD1) | ENSP00000508016.1:p.Arg175Ter | |
| ENST00000683736.1:c.350-199C>T (CRELD1) | ENSP00000507761.1:n.350-199C>T | |
| ENST00000683835.1:c.523C>T (CRELD1) | ENSP00000508148.1:p.Arg175Ter | |
| ENST00000683849.1:c.*14C>T (CRELD1) | ENSP00000506901.1:n.*14C>T | |
| ENST00000683888.1:n.1128C>T (CRELD1) | ||
| ENST00000683891.1:c.*14C>T (CRELD1) | ENSP00000506972.1:n.*14C>T | |
| ENST00000683921.1:c.*577C>T (CRELD1) | ENSP00000507395.1:n.*577C>T | |
| ENST00000683970.1:c.523C>T (CRELD1) | ENSP00000507906.1:p.Arg175Ter | |
| ENST00000683982.1:c.523C>T (CRELD1) | ENSP00000507437.1:p.Arg175Ter | |
| ENST00000684181.1:c.523C>T (CRELD1) | ENSP00000507522.1:p.Arg175Ter | |
| ENST00000684212.1:c.523C>T (CRELD1) | ENSP00000507565.1:p.Arg175Ter | |
| ENST00000684243.1:c.*189C>T (CRELD1) | ENSP00000506959.1:n.*189C>T | |
| ENST00000684291.1:c.523C>T (CRELD1) | ENSP00000506927.1:p.Arg175Ter | |
| ENST00000684318.1:c.523C>T (CRELD1) | ENSP00000508180.1:p.Arg175Ter | |
| ENST00000684419.1:n.1105C>T (CRELD1) | ||
| ENST00000684493.1:c.523C>T (CRELD1) | ENSP00000507127.1:p.Arg175Ter | |
| ENST00000684526.1:c.*14C>T (CRELD1) | ENSP00000508163.1:n.*14C>T | |
| ENST00000684532.1:c.523C>T (CRELD1) | ENSP00000508212.1:p.Arg175Ter | |
| ENST00000684601.1:c.523C>T (CRELD1) | ENSP00000507886.1:p.Arg175Ter | |
| ENST00000684613.1:c.523C>T (CRELD1) | ENSP00000508218.1:p.Arg175Ter | |
| ENST00000684629.1:c.*14C>T (CRELD1) | ENSP00000506879.1:n.*14C>T | |
| ENST00000684648.1:c.*14C>T (CRELD1) | ENSP00000507931.1:n.*14C>T | |
| ENST00000383811.8:c.523C>T (CRELD1) | ENSP00000373322.3:p.Arg175Ter | |
| ENST00000452070.6:c.523C>T (CRELD1) MANE Select | ENSP00000393643.2:p.Arg175Ter | |
| ENST00000673635.1:c.378C>T (CRELD1) | ENSP00000501186.1:n.378C>T | |
| ENST00000673677.1:c.793C>T | ENSP00000500985.1:n.793C>T | |
| ENST00000673737.1:c.523C>T (CRELD1) | ENSP00000501208.1:p.Arg175Ter | |
| ENST00000673935.1:c.50C>T (CRELD1) | ||
| ENST00000674057.1:c.*189C>T (CRELD1) | ENSP00000501128.1:n.*189C>T | |
| ENST00000674067.1:c.288C>T | ENSP00000501009.1:n.288C>T | |
| ENST00000326434.9:c.523C>T (CRELD1) | ENSP00000321856.5:p.Arg175Ter | |
| ENST00000383811.7:c.523C>T (CRELD1) | ENSP00000373322.3:p.Arg175Ter | |
| ENST00000397170.7:c.523C>T (CRELD1) | ENSP00000380355.3:p.Arg175Ter | |
| ENST00000414117.5:c.*14C>T (CRELD1) | ENSP00000411021.1:n.*14C>T | |
| ENST00000452070.5:c.523C>T (CRELD1) | ENSP00000393643.1:p.Arg175Ter | |
| NM_001031717.3:c.523C>T (CRELD1) | NP_001026887.1:p.Arg175Ter | |
| NM_001077415.2:c.523C>T (CRELD1) | NP_001070883.1:p.Arg175Ter | |
| NM_015513.4:c.523C>T (CRELD1) | NP_056328.2:p.Arg175Ter | |
| XM_011534108.1:c.523C>T (CRELD1) | XP_011532410.1:p.Arg175Ter | |
| XR_002959584.1:n.607C>T (CRELD1) | ||
| NM_001031717.4:c.523C>T (CRELD1) | NP_001026887.2:p.Arg175Ter | |
| NM_001077415.3:c.523C>T (CRELD1) MANE Select | NP_001070883.2:p.Arg175Ter | |
| NM_001374316.1:c.523C>T (CRELD1) | NP_001361245.1:p.Arg175Ter | |
| NM_001374317.1:c.523C>T (CRELD1) | NP_001361246.1:p.Arg175Ter | |
| NM_001374318.1:c.523C>T (CRELD1) | NP_001361247.1:p.Arg175Ter | |
| NM_001374319.1:c.523C>T (CRELD1) | NP_001361248.1:p.Arg175Ter | |
| NM_001374320.1:c.523C>T (CRELD1) | NP_001361249.1:p.Arg175Ter | |
| NM_015513.6:c.523C>T (CRELD1) | NP_056328.3:p.Arg175Ter | |
| NR_164475.1:n.561C>T (CRELD1) | ||
| NR_164476.1:n.537C>T (CRELD1) | ||
| NR_164477.1:n.911C>T (CRELD1) |