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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.
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.53207699A>C , CM000680.2:g.53207699A>C
GRCh38
NC_000018.9:g.50734069A>C , CM000680.1:g.50734069A>C
GRCh37
NC_000018.8:g.48988067A>C
NCBI36
NG_013341.1:g.872528A>C
NG_013341.2:g.872528A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000442544.7:c.1743A>C
MANE Select
ENSP00000389140.2:p.Leu581=
ENST00000304775.12:c.1544A>C
ENST00000412726.5:c.1674A>C
ENSP00000397322.2:p.Leu558=
ENST00000442544.6:c.1743A>C
ENSP00000389140.2:p.Leu581=
ENST00000581580.5:c.708A>C
ENSP00000464582.1:p.Leu236=
NM_005215.3:c.1743A>C
NP_005206.2:p.Leu581=
XM_011525843.1:c.1743A>C
XP_011524145.1:p.Leu581=
XM_011525844.1:c.708A>C
XP_011524146.1:p.Leu236=
XM_011525845.1:c.1743A>C
XP_011524147.1:p.Leu581=
XM_011525846.1:c.1743A>C
XP_011524148.1:p.Leu581=
XM_011525844.2:c.708A>C
XP_011524146.1:p.Leu236=
XM_017025568.1:c.1743A>C
XP_016881057.1:p.Leu581=
XM_017025569.1:c.1743A>C
XP_016881058.1:p.Leu581=
XM_017025570.1:c.708A>C
XP_016881059.1:p.Leu236=
NM_005215.4:c.1743A>C
MANE Select
NP_005206.2:p.Leu581=