Linked Data
ClinVar Variation Id:
407065
ClinVar RCV Id:
RCV000458734
dbSNP Id:
rs748476213
ExAC:
3:9985685 G / C
gnomAD v2:
3-9985685-G-C
gnomAD v3:
3-9944001-G-C
gnomAD v4:
3-9944001-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9944001G>C , CM000665.2:g.9944001G>C | GRCh38 |
| NC_000003.11:g.9985685G>C , CM000665.1:g.9985685G>C | GRCh37 |
| NC_000003.10:g.9960685G>C | NCBI36 |
| NG_017069.1:g.15161G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696835.1:c.*1697-364G>C | ENSP00000512913.1:n.*1697-364G>C | |
| ENST00000696836.1:c.*1697-364G>C | ENSP00000512914.1:n.*1697-364G>C | |
| ENST00000696837.1:c.*2526-364G>C | ENSP00000512915.1:n.*2526-364G>C | |
| ENST00000696838.1:c.*1697-364G>C | ENSP00000512916.1:n.*1697-364G>C | |
| ENST00000696839.1:c.*1697-364G>C | ENSP00000512917.1:n.*1697-364G>C | |
| ENST00000707135.1:n.957+2084C>G (PRRT3) | ||
| ENST00000707136.1:n.1494+157C>G (PRRT3) | ||
| ENST00000397170.8:c.1130-364G>C (CRELD1) | ENSP00000380355.4:n.1130-364G>C | |
| ENST00000435417.3:c.392-364G>C (CRELD1) | ||
| ENST00000467713.6:n.1848G>C (CRELD1) | ||
| ENST00000482691.2:n.850G>C (CRELD1) | ||
| ENST00000489674.6:n.709-364G>C (CRELD1) | ||
| ENST00000673635.2:c.*715-364G>C (CRELD1) | ENSP00000501186.2:n.*715-364G>C | |
| ENST00000673677.2:c.*342-364G>C (CRELD1) | ENSP00000500985.2:n.*342-364G>C | |
| ENST00000673737.2:c.*316-364G>C (CRELD1) | ENSP00000501208.1:n.*316-364G>C | |
| ENST00000673935.2:c.965-364G>C (CRELD1) | ENSP00000500961.2:n.965-364G>C | |
| ENST00000674067.2:c.*631-364G>C (CRELD1) | ENSP00000501009.2:n.*631-364G>C | |
| ENST00000681970.1:n.1715-364G>C | ||
| ENST00000682120.1:n.1685G>C (CRELD1) | ||
| ENST00000682122.1:c.*697-364G>C | ENSP00000507036.1:n.*697-364G>C | |
| ENST00000682200.1:c.*1025G>C (CRELD1) | ENSP00000508321.1:n.*1025G>C | |
| ENST00000682318.1:c.*748-364G>C (CRELD1) | ENSP00000507946.1:n.*748-364G>C | |
| ENST00000682372.1:n.1212-364G>C (CRELD1) | ||
| ENST00000682397.1:c.*530-364G>C (CRELD1) | ENSP00000507177.1:n.*530-364G>C | |
| ENST00000682403.1:c.*1223G>C (CRELD1) | ENSP00000507865.1:n.*1223G>C | |
| ENST00000682570.1:c.*16-364G>C (CRELD1) | ENSP00000507973.1:n.*16-364G>C | |
| ENST00000682642.1:c.*250G>C (CRELD1) | ENSP00000507251.1:n.*250G>C | |
| ENST00000682771.1:c.*642G>C (CRELD1) | ENSP00000507114.1:n.*642G>C | |
| ENST00000682783.1:c.1049-364G>C (CRELD1) | ENSP00000508358.1:n.1049-364G>C | |
| ENST00000682790.1:c.*1306G>C (CRELD1) | ENSP00000507904.1:n.*1306G>C | |
| ENST00000682798.1:n.1862-364G>C (CRELD1) | ||
| ENST00000682884.1:n.2236G>C (CRELD1) | ||
| ENST00000682906.1:c.*1233G>C (CRELD1) | ENSP00000507674.1:n.*1233G>C | |
| ENST00000682907.1:c.*154-364G>C (CRELD1) | ENSP00000508209.1:n.*154-364G>C | |
| ENST00000682929.1:c.*440-364G>C (CRELD1) | ENSP00000507930.1:n.*440-364G>C | |
| ENST00000683061.1:n.2632-364G>C | ||
| ENST00000683083.1:n.1365-364G>C (CRELD1) | ||
| ENST00000683127.1:c.*524-364G>C (CRELD1) | ENSP00000506906.1:n.*524-364G>C | |
| ENST00000683189.1:c.1064G>C (CRELD1) | ENSP00000508018.1:p.Arg355Thr | |
| ENST00000683232.1:c.*1233G>C (CRELD1) | ENSP00000506842.1:n.*1233G>C | |
| ENST00000683239.1:n.1872G>C (CRELD1) | ||
| ENST00000683279.1:n.1435G>C (CRELD1) | ||
| ENST00000683301.1:c.*748-364G>C (CRELD1) | ENSP00000507718.1:n.*748-364G>C | |
| ENST00000683316.1:c.*524-364G>C (CRELD1) | ENSP00000507076.1:n.*524-364G>C | |
| ENST00000683388.1:n.3252G>C (CRELD1) | ||
| ENST00000683467.1:n.1479-364G>C (CRELD1) | ||
| ENST00000683484.1:c.*697-364G>C | ENSP00000507040.1:n.*697-364G>C | |
| ENST00000683547.1:c.*1009G>C (CRELD1) | ENSP00000507258.1:n.*1009G>C | |
| ENST00000683601.1:c.*531G>C (CRELD1) | ENSP00000507737.1:n.*531G>C | |
| ENST00000683603.1:c.*250G>C (CRELD1) | ENSP00000508016.1:n.*250G>C | |
| ENST00000683835.1:c.1148G>C (CRELD1) | ENSP00000508148.1:p.Arg383Thr | |
| ENST00000683849.1:c.*782G>C (CRELD1) | ENSP00000506901.1:n.*782G>C | |
| ENST00000683888.1:n.2347G>C (CRELD1) | ||
| ENST00000683921.1:c.*1103-364G>C (CRELD1) | ENSP00000507395.1:n.*1103-364G>C | |
| ENST00000683970.1:c.*1009G>C (CRELD1) | ENSP00000507906.1:n.*1009G>C | |
| ENST00000683982.1:c.1205G>C (CRELD1) | ENSP00000507437.1:p.Arg402Thr | |
| ENST00000684181.1:c.1160G>C (CRELD1) | ENSP00000507522.1:p.Arg387Thr | |
| ENST00000684212.1:c.1056G>C (CRELD1) | ENSP00000507565.1:p.Glu352Asp | |
| ENST00000684291.1:c.*316-364G>C (CRELD1) | ENSP00000506927.1:n.*316-364G>C | |
| ENST00000684318.1:c.*154-364G>C (CRELD1) | ENSP00000508180.1:n.*154-364G>C | |
| ENST00000684419.1:n.2324G>C (CRELD1) | ||
| ENST00000684493.1:c.1049-364G>C (CRELD1) | ENSP00000507127.1:n.1049-364G>C | |
| ENST00000684526.1:c.*748-364G>C (CRELD1) | ENSP00000508163.1:n.*748-364G>C | |
| ENST00000684532.1:c.*334G>C (CRELD1) | ENSP00000508212.1:n.*334G>C | |
| ENST00000684601.1:c.1106-364G>C (CRELD1) | ENSP00000507886.1:n.1106-364G>C | |
| ENST00000684613.1:c.*524-364G>C (CRELD1) | ENSP00000508218.1:n.*524-364G>C | |
| ENST00000684648.1:c.*1233G>C (CRELD1) | ENSP00000507931.1:n.*1233G>C | |
| ENST00000383811.8:c.1049-364G>C (CRELD1) | ENSP00000373322.3:n.1049-364G>C | |
| ENST00000435417.2:c.390-364G>C (CRELD1) | ||
| ENST00000452070.6:c.1049-364G>C (CRELD1) MANE Select | ENSP00000393643.2:n.1049-364G>C | |
| ENST00000673635.1:c.904-364G>C (CRELD1) | ENSP00000501186.1:n.904-364G>C | |
| ENST00000673677.1:c.1319-364G>C | ENSP00000500985.1:n.1319-364G>C | |
| ENST00000673737.1:c.*316-364G>C (CRELD1) | ENSP00000501208.1:n.*316-364G>C | |
| ENST00000673935.1:c.492-364G>C (CRELD1) | ||
| ENST00000674057.1:c.*722G>C (CRELD1) | ENSP00000501128.1:n.*722G>C | |
| ENST00000674067.1:c.814-364G>C | ENSP00000501009.1:n.814-364G>C | |
| ENST00000326434.9:c.1148G>C (CRELD1) | ENSP00000321856.5:p.Arg383Thr | |
| ENST00000383811.7:c.1049-364G>C (CRELD1) | ENSP00000373322.3:n.1049-364G>C | |
| ENST00000397170.7:c.1049-364G>C (CRELD1) | ENSP00000380355.3:n.1049-364G>C | |
| ENST00000435417.1:c.317-364G>C (CRELD1) | ||
| ENST00000452070.5:c.1049-364G>C (CRELD1) | ENSP00000393643.1:n.1049-364G>C | |
| ENST00000482691.1:n.524-364G>C (CRELD1) | ||
| ENST00000489674.5:n.379-364G>C (CRELD1) | ||
| NM_001031717.3:c.1148G>C (CRELD1) | NP_001026887.1:p.Arg383Thr | |
| NM_001077415.2:c.1049-364G>C (CRELD1) | NP_001070883.1:n.1049-364G>C | |
| NM_015513.4:c.1049-364G>C (CRELD1) | NP_056328.2:n.1049-364G>C | |
| XM_011534108.1:c.1160G>C (CRELD1) | XP_011532410.1:p.Arg387Thr | |
| XR_002959584.1:n.1440G>C (CRELD1) | ||
| NM_001031717.4:c.1148G>C (CRELD1) | NP_001026887.2:p.Arg383Thr | |
| NM_001077415.3:c.1049-364G>C (CRELD1) MANE Select | NP_001070883.2:n.1049-364G>C | |
| NM_001374316.1:c.1049-364G>C (CRELD1) | NP_001361245.1:n.1049-364G>C | |
| NM_001374317.1:c.1160G>C (CRELD1) | NP_001361246.1:p.Arg387Thr | |
| NM_001374318.1:c.1160G>C (CRELD1) | NP_001361247.1:p.Arg387Thr | |
| NM_001374319.1:c.965-364G>C (CRELD1) | NP_001361248.1:n.965-364G>C | |
| NM_001374320.1:c.965-364G>C (CRELD1) | NP_001361249.1:n.965-364G>C | |
| NM_015513.6:c.1049-364G>C (CRELD1) | NP_056328.3:n.1049-364G>C | |
| NR_164475.1:n.1077-364G>C (CRELD1) | ||
| NR_164476.1:n.1053-364G>C (CRELD1) | ||
| NR_164477.1:n.1427-364G>C (CRELD1) |