SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
dbSNP Id:
rs768892690
ExAC:
3:9982576 A / T
gnomAD v2:
3-9982576-A-T
gnomAD v4:
3-9940892-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9940892A>T , CM000665.2:g.9940892A>T | GRCh38 |
| NC_000003.11:g.9982576A>T , CM000665.1:g.9982576A>T | GRCh37 |
| NC_000003.10:g.9957576A>T | NCBI36 |
| NG_017069.1:g.12052A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696835.1:c.*1151A>T | ENSP00000512913.1:n.*1151A>T | |
| ENST00000696836.1:c.*1151A>T | ENSP00000512914.1:n.*1151A>T | |
| ENST00000696837.1:c.*1980A>T | ENSP00000512915.1:n.*1980A>T | |
| ENST00000696838.1:c.*1151A>T | ENSP00000512916.1:n.*1151A>T | |
| ENST00000696839.1:c.*1151A>T | ENSP00000512917.1:n.*1151A>T | |
| ENST00000707135.1:n.1221-258T>A (PRRT3) | ||
| ENST00000707136.1:n.1826-264T>A (PRRT3) | ||
| ENST00000397170.8:c.503A>T (CRELD1) | ENSP00000380355.4:p.Gln168Leu | |
| ENST00000414117.6:c.392A>T (CRELD1) | ENSP00000411021.2:p.Gln131Leu | |
| ENST00000467713.6:n.609A>T (CRELD1) | ||
| ENST00000489674.6:n.79A>T (CRELD1) | ||
| ENST00000673635.2:c.*169A>T (CRELD1) | ENSP00000501186.2:n.*169A>T | |
| ENST00000673677.2:c.503A>T (CRELD1) | ENSP00000500985.2:p.Gln168Leu | |
| ENST00000673737.2:c.503A>T (CRELD1) | ENSP00000501208.1:p.Gln168Leu | |
| ENST00000673935.2:c.503A>T (CRELD1) | ENSP00000500961.2:p.Gln168Leu | |
| ENST00000674067.2:c.*85A>T (CRELD1) | ENSP00000501009.2:n.*85A>T | |
| ENST00000681970.1:n.1169A>T | ||
| ENST00000682120.1:n.605A>T (CRELD1) | ||
| ENST00000682122.1:c.*151A>T | ENSP00000507036.1:n.*151A>T | |
| ENST00000682200.1:c.411A>T (CRELD1) | ENSP00000508321.1:p.Ala137= | |
| ENST00000682318.1:c.300A>T (CRELD1) | ENSP00000507946.1:p.Ala100= | |
| ENST00000682397.1:c.300A>T (CRELD1) | ENSP00000507177.1:p.Ala100= | |
| ENST00000682403.1:c.300A>T (CRELD1) | ENSP00000507865.1:p.Ala100= | |
| ENST00000682570.1:c.503A>T (CRELD1) | ENSP00000507973.1:p.Gln168Leu | |
| ENST00000682642.1:c.503A>T (CRELD1) | ENSP00000507251.1:p.Gln168Leu | |
| ENST00000682771.1:c.503A>T (CRELD1) | ENSP00000507114.1:p.Gln168Leu | |
| ENST00000682783.1:c.503A>T (CRELD1) | ENSP00000508358.1:p.Gln168Leu | |
| ENST00000682790.1:c.*77A>T (CRELD1) | ENSP00000507904.1:n.*77A>T | |
| ENST00000682798.1:n.1108A>T (CRELD1) | ||
| ENST00000682866.1:n.522A>T (CRELD1) | ||
| ENST00000682884.1:n.997A>T (CRELD1) | ||
| ENST00000682906.1:c.300A>T (CRELD1) | ENSP00000507674.1:p.Ala100= | |
| ENST00000682907.1:c.503A>T (CRELD1) | ENSP00000508209.1:p.Gln168Leu | |
| ENST00000682929.1:c.503A>T (CRELD1) | ENSP00000507930.1:p.Gln168Leu | |
| ENST00000682967.1:n.688A>T (CRELD1) | ||
| ENST00000683061.1:n.2086A>T | ||
| ENST00000683083.1:n.611A>T (CRELD1) | ||
| ENST00000683127.1:c.503A>T (CRELD1) | ENSP00000506906.1:p.Gln168Leu | |
| ENST00000683189.1:c.503A>T (CRELD1) | ENSP00000508018.1:p.Gln168Leu | |
| ENST00000683232.1:c.300A>T (CRELD1) | ENSP00000506842.1:p.Ala100= | |
| ENST00000683239.1:n.633A>T (CRELD1) | ||
| ENST00000683279.1:n.582A>T (CRELD1) | ||
| ENST00000683301.1:c.300A>T (CRELD1) | ENSP00000507718.1:p.Ala100= | |
| ENST00000683316.1:c.503A>T (CRELD1) | ENSP00000507076.1:p.Gln168Leu | |
| ENST00000683388.1:n.2607A>T (CRELD1) | ||
| ENST00000683467.1:n.725A>T (CRELD1) | ||
| ENST00000683484.1:c.*151A>T | ENSP00000507040.1:n.*151A>T | |
| ENST00000683547.1:c.503A>T (CRELD1) | ENSP00000507258.1:p.Gln168Leu | |
| ENST00000683601.1:c.503A>T (CRELD1) | ENSP00000507737.1:p.Gln168Leu | |
| ENST00000683603.1:c.503A>T (CRELD1) | ENSP00000508016.1:p.Gln168Leu | |
| ENST00000683736.1:c.350-219A>T (CRELD1) | ENSP00000507761.1:n.350-219A>T | |
| ENST00000683835.1:c.503A>T (CRELD1) | ENSP00000508148.1:p.Gln168Leu | |
| ENST00000683849.1:c.300A>T (CRELD1) | ENSP00000506901.1:p.Ala100= | |
| ENST00000683888.1:n.1108A>T (CRELD1) | ||
| ENST00000683891.1:c.411A>T (CRELD1) | ENSP00000506972.1:p.Ala137= | |
| ENST00000683921.1:c.*557A>T (CRELD1) | ENSP00000507395.1:n.*557A>T | |
| ENST00000683970.1:c.503A>T (CRELD1) | ENSP00000507906.1:p.Gln168Leu | |
| ENST00000683982.1:c.503A>T (CRELD1) | ENSP00000507437.1:p.Gln168Leu | |
| ENST00000684181.1:c.503A>T (CRELD1) | ENSP00000507522.1:p.Gln168Leu | |
| ENST00000684212.1:c.503A>T (CRELD1) | ENSP00000507565.1:p.Gln168Leu | |
| ENST00000684243.1:c.*169A>T (CRELD1) | ENSP00000506959.1:n.*169A>T | |
| ENST00000684291.1:c.503A>T (CRELD1) | ENSP00000506927.1:p.Gln168Leu | |
| ENST00000684318.1:c.503A>T (CRELD1) | ENSP00000508180.1:p.Gln168Leu | |
| ENST00000684419.1:n.1085A>T (CRELD1) | ||
| ENST00000684493.1:c.503A>T (CRELD1) | ENSP00000507127.1:p.Gln168Leu | |
| ENST00000684526.1:c.411A>T (CRELD1) | ENSP00000508163.1:p.Ala137= | |
| ENST00000684532.1:c.503A>T (CRELD1) | ENSP00000508212.1:p.Gln168Leu | |
| ENST00000684601.1:c.503A>T (CRELD1) | ENSP00000507886.1:p.Gln168Leu | |
| ENST00000684613.1:c.503A>T (CRELD1) | ENSP00000508218.1:p.Gln168Leu | |
| ENST00000684629.1:c.300A>T (CRELD1) | ENSP00000506879.1:p.Ala100= | |
| ENST00000684648.1:c.411A>T (CRELD1) | ENSP00000507931.1:p.Ala137= | |
| ENST00000383811.8:c.503A>T (CRELD1) | ENSP00000373322.3:p.Gln168Leu | |
| ENST00000452070.6:c.503A>T (CRELD1) MANE Select | ENSP00000393643.2:p.Gln168Leu | |
| ENST00000673635.1:c.358A>T (CRELD1) | ENSP00000501186.1:n.358A>T | |
| ENST00000673677.1:c.773A>T | ENSP00000500985.1:n.773A>T | |
| ENST00000673737.1:c.503A>T (CRELD1) | ENSP00000501208.1:p.Gln168Leu | |
| ENST00000673935.1:c.30A>T (CRELD1) | ||
| ENST00000674057.1:c.*169A>T (CRELD1) | ENSP00000501128.1:n.*169A>T | |
| ENST00000674067.1:c.268A>T | ENSP00000501009.1:n.268A>T | |
| ENST00000326434.9:c.503A>T (CRELD1) | ENSP00000321856.5:p.Gln168Leu | |
| ENST00000383811.7:c.503A>T (CRELD1) | ENSP00000373322.3:p.Gln168Leu | |
| ENST00000397170.7:c.503A>T (CRELD1) | ENSP00000380355.3:p.Gln168Leu | |
| ENST00000414117.5:c.300A>T (CRELD1) | ENSP00000411021.1:p.Ala100= | |
| ENST00000452070.5:c.503A>T (CRELD1) | ENSP00000393643.1:p.Gln168Leu | |
| NM_001031717.3:c.503A>T (CRELD1) | NP_001026887.1:p.Gln168Leu | |
| NM_001077415.2:c.503A>T (CRELD1) | NP_001070883.1:p.Gln168Leu | |
| NM_015513.4:c.503A>T (CRELD1) | NP_056328.2:p.Gln168Leu | |
| XM_011534108.1:c.503A>T (CRELD1) | XP_011532410.1:p.Gln168Leu | |
| XR_002959584.1:n.587A>T (CRELD1) | ||
| NM_001031717.4:c.503A>T (CRELD1) | NP_001026887.2:p.Gln168Leu | |
| NM_001077415.3:c.503A>T (CRELD1) MANE Select | NP_001070883.2:p.Gln168Leu | |
| NM_001374316.1:c.503A>T (CRELD1) | NP_001361245.1:p.Gln168Leu | |
| NM_001374317.1:c.503A>T (CRELD1) | NP_001361246.1:p.Gln168Leu | |
| NM_001374318.1:c.503A>T (CRELD1) | NP_001361247.1:p.Gln168Leu | |
| NM_001374319.1:c.503A>T (CRELD1) | NP_001361248.1:p.Gln168Leu | |
| NM_001374320.1:c.503A>T (CRELD1) | NP_001361249.1:p.Gln168Leu | |
| NM_015513.6:c.503A>T (CRELD1) | NP_056328.3:p.Gln168Leu | |
| NR_164475.1:n.541A>T (CRELD1) | ||
| NR_164476.1:n.517A>T (CRELD1) | ||
| NR_164477.1:n.891A>T (CRELD1) |