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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_000009.12:g.91220826C>G , CM000671.2:g.91220826C>G
GRCh38
NC_000009.11:g.93983108C>G , CM000671.1:g.93983108C>G
GRCh37
NC_000009.10:g.93022929C>G
NCBI36
NG_008017.1:g.146099G>C , LRG_449:g.146099G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.822G>C
MANE Select
ENSP00000364883.5:p.Leu274=
ENST00000303617.5:c.735G>C
ENSP00000307334.5:p.Leu245=
ENST00000375731.8:c.822G>C
ENSP00000364883.4:p.Leu274=
ENST00000473695.1:n.94G>C
NM_001306190.1:c.735G>C
NP_001293119.1:p.Leu245=
NM_001698.2:c.822G>C , LRG_449t1:c.822G>C
NP_001689.1:p.Leu274=
XM_005252066.2:c.852G>C
XP_005252123.1:p.Leu284=
XM_005252067.3:c.852G>C
XP_005252124.1:p.Leu284=
XM_005252069.3:c.852G>C
XP_005252126.1:p.Leu284=
XM_005252073.2:c.360G>C
XP_005252130.1:p.Leu120=
XM_006717150.2:c.765G>C
XP_006717213.1:p.Leu255=
XM_011518801.1:c.498G>C
XP_011517103.1:p.Leu166=
XM_011518802.1:c.495G>C
XP_011517104.1:p.Leu165=
NM_001351431.1:c.495G>C
NP_001338360.1:p.Leu165=
NM_001351432.1:c.495G>C
NP_001338361.1:p.Leu165=
NM_001351433.1:c.495G>C
NP_001338362.1:p.Leu165=
XM_005252066.3:c.852G>C
XP_005252123.1:p.Leu284=
XM_005252067.4:c.852G>C
XP_005252124.1:p.Leu284=
XM_005252069.4:c.852G>C
XP_005252126.1:p.Leu284=
XM_006717150.3:c.765G>C
XP_006717213.1:p.Leu255=
XM_017014849.1:c.822G>C
XP_016870338.1:p.Leu274=
XR_001746328.2:n.1047G>C
XR_001746329.2:n.999G>C
NM_001698.3:c.822G>C
MANE Select
NP_001689.1:p.Leu274=
NM_001306190.2:c.735G>C
NP_001293119.1:p.Leu245=
NM_001351431.2:c.495G>C
NP_001338360.1:p.Leu165=
NM_001351432.2:c.495G>C
NP_001338361.1:p.Leu165=
NM_001351433.2:c.495G>C
NP_001338362.1:p.Leu165=