SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26453401A>G , CM000684.2:g.26453401A>G | GRCh38 |
| NC_000022.10:g.26849367A>G , CM000684.1:g.26849367A>G | GRCh37 |
| NC_000022.9:g.25179367A>G | NCBI36 |
| NG_009763.2:g.35463T>C , LRG_590:g.35463T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022081.6:c.1959T>C MANE Select | NP_071364.4:p.Asn653= |
| ENST00000398145.7:c.1959T>C MANE Select | ENSP00000381213.2:p.Asn653= |
| NM_001349896.1:c.1959T>C | NP_001336825.1:p.Asn653= |
| NM_001349898.1:c.1959T>C | NP_001336827.1:p.Asn653= |
| NM_001349898.2:c.1959T>C | NP_001336827.1:p.Asn653= |
| NM_001349899.1:c.1959T>C | NP_001336828.1:p.Asn653= |
| NM_001349899.2:c.1959T>C | NP_001336828.1:p.Asn653= |
| NM_001349900.1:c.2013T>C | NP_001336829.1:p.Asn671= |
| NM_001349900.2:c.2013T>C | NP_001336829.1:p.Asn671= |
| NM_001349901.1:c.2013T>C | NP_001336830.1:p.Asn671= |
| NM_001349902.1:c.1717T>C | NP_001336831.1:p.Cys573Arg |
| NM_001349903.1:c.1717T>C | NP_001336832.1:p.Cys573Arg |
| NM_001349903.2:c.1717T>C | NP_001336832.1:p.Cys573Arg |
| NM_001349904.1:c.1955+4458T>C | NP_001336833.1:n.1955+4458T>C |
| NM_001349904.2:c.1955+4458T>C | NP_001336833.1:n.1955+4458T>C |
| NM_001349905.1:c.1955+4458T>C | NP_001336834.1:n.1955+4458T>C |
| NM_022081.5:c.1959T>C , LRG_590t1:c.1959T>C | NP_071364.4:p.Asn653= |
| NM_152841.2:c.1944T>C , LRG_590t2:c.1944T>C | NP_690054.1:p.Asn648= |
| NR_073135.1:n.2645T>C | |
| NR_073136.1:n.2407T>C | |
| NR_073136.2:n.2214T>C | |
| NR_146311.1:n.2736T>C | |
| NR_146311.2:n.2656T>C | |
| NR_146312.1:n.2561T>C | |
| NR_146313.1:n.2581T>C | |
| NR_146313.2:n.2501T>C | |
| NR_146314.1:n.2712T>C | |
| NR_146315.1:n.2652T>C | |
| NR_146315.2:n.2572T>C | |
| NR_146316.1:n.2627T>C | |
| NR_146316.2:n.2547T>C | |
| ENST00000336873.9:c.1959T>C | ENSP00000338457.5:p.Asn653= |
| ENST00000398145.6:c.1959T>C | ENSP00000381213.2:p.Asn653= |
| ENST00000402105.7:c.1944T>C | ENSP00000384185.3:p.Asn648= |
| ENST00000422379.3:c.2013T>C | ENSP00000415081.3:p.Asn671= |
| ENST00000429411.5:c.*1531T>C | ENSP00000399705.1:n.*1531T>C |
| ENST00000439453.5:c.*1477T>C | ENSP00000406764.1:n.*1477T>C |
| ENST00000464362.5:c.*2290T>C | ENSP00000430291.1:n.*2290T>C |
| ENST00000466781.5:n.4818T>C | |
| ENST00000473782.2:c.1959T>C | ENSP00000514223.1:p.Asn653= |
| ENST00000483631.2:c.1164T>C | ENSP00000514228.1:p.Asn388= |
| ENST00000491142.2:c.1959T>C | ENSP00000514221.1:p.Asn653= |
| ENST00000493455.6:n.518+4458T>C | |
| ENST00000496385.5:n.2483T>C | |
| ENST00000519774.5:n.341+4458T>C | |
| ENST00000699226.1:n.4881+4458T>C | |
| ENST00000699227.1:c.*1299+4458T>C | ENSP00000514220.1:n.*1299+4458T>C |
| ENST00000699228.1:n.2505+4458T>C | |
| ENST00000699229.1:n.1376T>C | |
| ENST00000699230.1:n.2682T>C | |
| ENST00000699231.1:n.4971T>C | |
| ENST00000699232.1:n.3315T>C | |
| ENST00000699233.1:n.1830T>C | |
| ENST00000699234.1:c.*1303T>C | ENSP00000514222.1:n.*1303T>C |
| ENST00000699235.1:c.1164T>C | ENSP00000514224.1:p.Asn388= |
| ENST00000699236.1:c.*1148T>C | ENSP00000514225.1:n.*1148T>C |
| ENST00000699237.1:c.*1148T>C | ENSP00000514226.1:n.*1148T>C |
| ENST00000699238.1:c.*1502T>C | ENSP00000514227.1:n.*1502T>C |
| ENST00000699239.1:n.4713T>C | |
| ENST00000699240.1:c.*1616T>C | ENSP00000514229.1:n.*1616T>C |
| ENST00000699241.1:c.*2151T>C | ENSP00000514230.1:n.*2151T>C |
| ENST00000699242.1:c.1869T>C | ENSP00000514231.1:p.Asn623= |
| ENST00000699243.1:c.*1303T>C | ENSP00000514232.1:n.*1303T>C |
| ENST00000699244.1:c.1812T>C | ENSP00000514233.1:p.Asn604= |
| ENST00000699245.1:n.1251T>C | |
| ENST00000699246.1:c.*1330T>C | ENSP00000514234.1:n.*1330T>C |
| ENST00000699247.1:c.915T>C | ENSP00000514235.1:p.Asn305= |
| ENST00000699248.1:n.3787T>C | |
| ENST00000699249.1:c.*1061T>C | ENSP00000514236.1:n.*1061T>C |
| ENST00000699250.1:c.1717T>C | ENSP00000514237.1:p.Cys573Arg |
| ENST00000699251.1:c.*484T>C | ENSP00000514238.1:n.*484T>C |
| XM_006724353.2:c.2013T>C | XP_006724416.1:p.Asn671= |
| XM_006724354.2:c.2013T>C | XP_006724417.1:p.Asn671= |
| XM_006724360.2:c.1446T>C | XP_006724423.1:p.Asn482= |
| XM_006724360.3:c.1446T>C | XP_006724423.1:p.Asn482= |
| XM_011530485.1:c.2091T>C | XP_011528787.1:p.Asn697= |
| XM_011530485.2:c.2091T>C | XP_011528787.1:p.Asn697= |
| XM_011530486.1:c.2091T>C | XP_011528788.1:p.Asn697= |
| XM_011530486.2:c.2091T>C | XP_011528788.1:p.Asn697= |
| XM_011530487.1:c.2091T>C | XP_011528789.1:p.Asn697= |
| XM_011530487.2:c.2091T>C | XP_011528789.1:p.Asn697= |
| XM_011530488.1:c.2091T>C | XP_011528790.1:p.Asn697= |
| XM_011530488.2:c.2091T>C | XP_011528790.1:p.Asn697= |
| XM_011530489.1:c.2091T>C | XP_011528791.1:p.Asn697= |
| XM_011530489.2:c.2091T>C | XP_011528791.1:p.Asn697= |
| XM_011530490.1:c.2037T>C | XP_011528792.1:p.Asn679= |
| XM_011530490.3:c.2037T>C | XP_011528792.1:p.Asn679= |
| XM_011530492.1:c.2087+4458T>C | XP_011528794.1:n.2087+4458T>C |
| XM_011530492.2:c.2087+4458T>C | XP_011528794.1:n.2087+4458T>C |
| XM_011530493.1:c.1849T>C | XP_011528795.1:p.Cys617Arg |
| XM_011530493.3:c.1849T>C | XP_011528795.1:p.Cys617Arg |
| XM_011530494.1:c.1299T>C | XP_011528796.1:p.Asn433= |
| XM_011530494.2:c.1299T>C | XP_011528796.1:p.Asn433= |
| XM_011530495.1:c.1446T>C | XP_011528797.1:p.Asn482= |
| XM_011530495.2:c.1446T>C | XP_011528797.1:p.Asn482= |
| XM_011530496.1:c.1299T>C | XP_011528798.1:p.Asn433= |
| XM_011530496.2:c.1299T>C | XP_011528798.1:p.Asn433= |
| XM_017029045.2:c.2033+4458T>C | XP_016884534.1:n.2033+4458T>C |
| XM_017029046.2:c.*484T>C | XP_016884535.1:n.*484T>C |
| XM_017029047.2:c.1795T>C | XP_016884536.1:p.Cys599Arg |
| XM_017029052.2:c.1551T>C | XP_016884541.1:p.Asn517= |
| XM_017029053.1:c.1536T>C | XP_016884542.1:p.Asn512= |
| XM_017029056.2:c.1164T>C | XP_016884545.1:p.Asn388= |
| XM_017029061.2:c.1164T>C | XP_016884550.1:p.Asn388= |
| XM_017029062.2:c.1164T>C | XP_016884551.1:p.Asn388= |
| XM_017029063.2:c.1164T>C | XP_016884552.1:p.Asn388= |
| XM_017029064.2:c.1164T>C | XP_016884553.1:p.Asn388= |
| XM_024452298.1:c.1332T>C | XP_024308066.1:p.Asn444= |
| XM_024452299.1:c.1164T>C | XP_024308067.1:p.Asn388= |
| XM_024452300.1:c.1160+4458T>C | XP_024308068.1:n.1160+4458T>C |
| XR_001755361.2:n.2667T>C | |
| XR_001755364.1:n.2281T>C | |
| XR_001755366.2:n.3196T>C | |
| XR_002958721.1:n.2503T>C | |
| XR_937947.1:n.2750T>C | |
| XR_937947.2:n.2745T>C |