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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.159341600T= , CM000666.2:g.159341600T=
GRCh38
NC_000004.11:g.160262752T= , CM000666.1:g.160262752T=
GRCh37
NC_000004.10:g.160482202T=
NCBI36
NG_063926.1:g.242532T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000505026.2:c.2088T=
ENSP00000516108.1:p.Leu696=
ENST00000691494.1:c.2571T=
MANE Select
ENSP00000510694.1:p.Leu857=
ENST00000644474.1:c.2553T=
ENSP00000495906.1:p.Leu851=
ENST00000644902.1:c.2217T=
ENSP00000495298.1:p.Leu739=
ENST00000264431.8:c.2088T=
ENSP00000264431.4:p.Leu696=
NM_014247.2:c.2088T=
NP_055062.1:p.Leu696=
XM_005263358.2:c.2571T=
XP_005263415.1:p.Leu857=
XM_005263359.2:c.2571T=
XP_005263416.1:p.Leu857=
XM_005263360.2:c.2571T=
XP_005263417.1:p.Leu857=
XM_005263361.2:c.2553T=
XP_005263418.1:p.Leu851=
XM_006714420.2:c.2553T=
XP_006714483.1:p.Leu851=
XM_006714421.2:c.2571T=
XP_006714484.1:p.Leu857=
XM_006714422.2:c.2223T=
XP_006714485.1:p.Leu741=
XM_011532425.1:c.2235T=
XP_011530727.1:p.Leu745=
XM_011532426.1:c.2223T=
XP_011530728.1:p.Leu741=
XM_011532427.1:c.2088T=
XP_011530729.1:p.Leu696=
NM_001351724.1:c.2571T=
NP_001338653.1:p.Leu857=
NM_001351725.1:c.2223T=
NP_001338654.1:p.Leu741=
NM_001351726.1:c.2223T=
NP_001338655.1:p.Leu741=
NM_001351727.1:c.2088T=
NP_001338656.1:p.Leu696=
NM_001351728.1:c.2088T=
NP_001338657.1:p.Leu696=
XM_005263358.3:c.2571T=
XP_005263415.1:p.Leu857=
XM_005263359.4:c.2571T=
XP_005263416.1:p.Leu857=
XM_005263360.3:c.2571T=
XP_005263417.1:p.Leu857=
XM_005263361.3:c.2553T=
XP_005263418.1:p.Leu851=
XM_006714420.3:c.2553T=
XP_006714483.1:p.Leu851=
XM_006714422.4:c.2223T=
XP_006714485.1:p.Leu741=
XM_011532425.2:c.2235T=
XP_011530727.1:p.Leu745=
XM_011532426.2:c.2223T=
XP_011530728.1:p.Leu741=
XM_017008856.2:c.2571T=
XP_016864345.1:p.Leu857=
XM_024454286.1:c.2205T=
XP_024310054.1:p.Leu735=
XM_024454287.1:c.2205T=
XP_024310055.1:p.Leu735=
NM_001351724.2:c.2571T=
NP_001338653.1:p.Leu857=
NM_001351727.2:c.2088T=
NP_001338656.1:p.Leu696=
NM_001351728.2:c.2088T=
NP_001338657.1:p.Leu696=
NM_014247.3:c.2088T=
NP_055062.1:p.Leu696=
NM_001351724.4:c.2571T=
NP_001338653.1:p.Leu857=
NM_001351725.2:c.2223T=
NP_001338654.1:p.Leu741=
NM_001351726.3:c.2223T=
NP_001338655.1:p.Leu741=
NM_001351727.4:c.2088T=
NP_001338656.1:p.Leu696=
NM_001351728.4:c.2088T=
NP_001338657.1:p.Leu696=
NM_001394067.1:c.2571T=
NP_001380996.1:p.Leu857=
NM_014247.5:c.2088T=
NP_055062.1:p.Leu696=
NM_001351724.5:c.2571T=
NP_001338653.1:p.Leu857=
NM_001394067.2:c.2571T=
MANE Select
NP_001380996.1:p.Leu857=