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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.195870152C>T , CM000665.2:g.195870152C>T | GRCh38 |
| NC_000003.11:g.195597023C>T , CM000665.1:g.195597023C>T | GRCh37 |
| NC_000003.10:g.197081420C>T | NCBI36 |
| NG_029779.1:g.43858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672887.2:c.1505G>A MANE Select | ENSP00000499899.1:p.Ser502Asn | |
| ENST00000333602.14:c.1505G>A | ENSP00000329425.6:p.Ser502Asn | |
| ENST00000381916.7:c.1694G>A | ENSP00000371341.2:p.Ser565Asn | |
| ENST00000428187.7:c.1601G>A | ENSP00000392546.1:p.Ser534Asn | |
| ENST00000439230.6:c.*117G>A | ENSP00000395588.1:n.*117G>A | |
| ENST00000671753.1:c.1577G>A | ENSP00000499858.1:p.Ser526Asn | |
| ENST00000671767.1:c.299G>A | ENSP00000499862.1:p.Ser100Asn | |
| ENST00000672024.1:c.1505G>A | ENSP00000500486.1:p.Ser502Asn | |
| ENST00000672098.1:c.35G>A | ENSP00000500684.1:p.Ser12Asn | |
| ENST00000672320.1:n.355G>A | ||
| ENST00000672548.1:c.35G>A | ENSP00000500238.1:p.Ser12Asn | |
| ENST00000672614.1:n.4013G>A | ||
| ENST00000672669.1:c.35G>A | ENSP00000500276.1:p.Ser12Asn | |
| ENST00000672886.1:c.35G>A | ENSP00000500479.1:p.Ser12Asn | |
| ENST00000672887.1:c.1505G>A | ENSP00000499899.1:p.Ser502Asn | |
| ENST00000673038.1:c.1601G>A | ENSP00000500452.1:p.Ser534Asn | |
| ENST00000673358.1:n.1102G>A | ||
| ENST00000673374.1:c.*480G>A | ENSP00000500225.1:n.*480G>A | |
| ENST00000673420.1:c.1505G>A | ENSP00000500887.1:p.Ser502Asn | |
| ENST00000673440.1:n.17G>A | ||
| ENST00000678220.1:c.1601G>A | ENSP00000503221.1:p.Ser534Asn | |
| ENST00000333602.10:c.1505G>A | ENSP00000329425.6:p.Ser502Asn | |
| ENST00000381916.6:c.1694G>A | ENSP00000371341.2:p.Ser565Asn | |
| ENST00000411741.1:c.440G>A | ENSP00000415126.1:p.Ser147Asn | |
| ENST00000416152.5:c.161G>A | ENSP00000398614.1:p.Ser54Asn | |
| ENST00000424563.5:c.334G>A | ||
| ENST00000428187.5:c.1601G>A | ENSP00000392546.1:p.Ser534Asn | |
| ENST00000439230.5:c.*117G>A | ENSP00000395588.1:n.*117G>A | |
| ENST00000464041.5:n.1610G>A | ||
| ENST00000478623.5:n.323G>A | ||
| ENST00000478715.1:n.355G>A | ||
| ENST00000481865.5:n.4013G>A | ||
| ENST00000489628.1:n.1102G>A | ||
| ENST00000495247.5:n.17G>A | ||
| NM_001010938.1:c.1694G>A | NP_001010938.1:p.Ser565Asn | |
| NM_001308046.1:c.1601G>A | NP_001294975.1:p.Ser534Asn | |
| NM_005781.4:c.1505G>A | NP_005772.3:p.Ser502Asn | |
| XM_005269268.3:c.1694G>A | XP_005269325.1:p.Ser565Asn | |
| XM_005269270.3:c.1505G>A | XP_005269327.1:p.Ser502Asn | |
| XM_005269274.3:c.788G>A | XP_005269331.1:p.Ser263Asn | |
| XM_005269275.3:c.563G>A | XP_005269332.1:p.Ser188Asn | |
| XM_011512317.1:c.1997G>A | XP_011510619.1:p.Ser666Asn | |
| XM_011512318.1:c.1505G>A | XP_011510620.1:p.Ser502Asn | |
| XM_011512319.1:c.1505G>A | XP_011510621.1:p.Ser502Asn | |
| XM_011512320.1:c.1505G>A | XP_011510622.1:p.Ser502Asn | |
| XM_011512321.1:c.1277G>A | XP_011510623.1:p.Ser426Asn | |
| XM_011512317.3:c.1997G>A | XP_011510619.1:p.Ser666Asn | |
| XM_011512318.2:c.1601G>A | XP_011510620.2:p.Ser534Asn | |
| XM_011512321.2:c.1277G>A | XP_011510623.1:p.Ser426Asn | |
| XM_017005508.1:c.1601G>A | XP_016860997.1:p.Ser534Asn | |
| XM_017005509.1:c.1601G>A | XP_016860998.1:p.Ser534Asn | |
| XM_017005510.1:c.1601G>A | XP_016860999.1:p.Ser534Asn | |
| XM_024453291.1:c.1697G>A | XP_024309059.1:p.Ser566Asn | |
| XM_024453292.1:c.1556G>A | XP_024309060.1:p.Ser519Asn | |
| XM_024453293.1:c.1505G>A | XP_024309061.1:p.Ser502Asn | |
| XM_024453294.1:c.1505G>A | XP_024309062.1:p.Ser502Asn | |
| XM_024453295.1:c.1505G>A | XP_024309063.1:p.Ser502Asn | |
| NM_001010938.2:c.1577G>A | NP_001010938.2:p.Ser526Asn | |
| NM_001308046.2:c.1601G>A | NP_001294975.1:p.Ser534Asn | |
| NM_001382271.1:c.1601G>A | NP_001369200.1:p.Ser534Asn | |
| NM_001382272.1:c.1577G>A | NP_001369201.1:p.Ser526Asn | |
| NM_001382273.1:c.1505G>A MANE Select | NP_001369202.1:p.Ser502Asn | |
| NM_001382274.1:c.1505G>A | NP_001369203.1:p.Ser502Asn | |
| NM_001382275.1:c.1601G>A | NP_001369204.1:p.Ser534Asn | |
| NM_001386164.1:c.1505G>A | NP_001373093.1:p.Ser502Asn | |
| NM_001387707.1:c.1601G>A | NP_001374636.1:p.Ser534Asn | |
| NM_001387708.1:c.1577G>A | NP_001374637.1:p.Ser526Asn | |
| NM_001387709.1:c.1505G>A | NP_001374638.1:p.Ser502Asn | |
| NM_001387710.1:c.1505G>A | NP_001374639.1:p.Ser502Asn | |
| NM_001387711.1:c.1505G>A | NP_001374640.1:p.Ser502Asn | |
| NM_001387712.1:c.1505G>A | NP_001374641.1:p.Ser502Asn | |
| NM_001387713.1:c.1505G>A | NP_001374642.1:p.Ser502Asn | |
| NM_001387714.1:c.1505G>A | NP_001374643.1:p.Ser502Asn | |
| NM_001387715.1:c.1577G>A | NP_001374644.1:p.Ser526Asn | |
| NM_001387716.1:c.1505G>A | NP_001374645.1:p.Ser502Asn | |
| NM_001387717.1:c.1505G>A | NP_001374646.1:p.Ser502Asn | |
| NM_001387718.1:c.1505G>A | NP_001374647.1:p.Ser502Asn | |
| NM_001387719.1:c.1505G>A | NP_001374648.1:p.Ser502Asn | |
| NM_001387720.1:c.1505G>A | NP_001374649.1:p.Ser502Asn | |
| NM_001387721.1:c.1505G>A | NP_001374650.1:p.Ser502Asn | |
| NM_005781.5:c.1505G>A | NP_005772.3:p.Ser502Asn | |
| NR_170678.1:n.1752G>A | ||
| NR_170679.1:n.2056G>A | ||
| NR_170680.1:n.1763G>A | ||
| NR_170681.1:n.1763G>A | ||
| NR_170682.1:n.2030G>A | ||
| NR_170683.1:n.2030G>A | ||
| NR_170684.1:n.1443G>A | ||
| NR_170685.1:n.1901G>A | ||
| NR_170686.1:n.1814G>A | ||
| NR_170687.1:n.1744G>A | ||
| NR_170688.1:n.2030G>A | ||
| NR_170689.1:n.1544G>A | ||
| NR_170690.1:n.1355G>A | ||
| NR_170691.1:n.1702G>A | ||
| NR_170692.1:n.1312G>A |