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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_000004.12:g.88131097A>G , CM000666.2:g.88131097A>G
GRCh38
NC_000004.11:g.89052249A>G , CM000666.1:g.89052249A>G
GRCh37
NC_000004.10:g.89271273A>G
NCBI36
NG_032067.2:g.105226T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000237612.8:c.495T>C
MANE Select
ENSP00000237612.3:p.Ile165=
ENST00000650821.1:c.495T>C
ENSP00000498246.1:p.Ile165=
ENST00000237612.7:c.495T>C
ENSP00000237612.3:p.Ile165=
ENST00000515655.5:c.495T>C
ENSP00000426917.1:p.Ile165=
NM_001257386.1:c.495T>C
NP_001244315.1:p.Ile165=
NM_004827.2:c.495T>C
NP_004818.2:p.Ile165=
XM_005263354.2:c.495T>C
XP_005263411.1:p.Ile165=
XM_005263355.2:c.495T>C
XP_005263412.1:p.Ile165=
XM_005263356.2:c.495T>C
XP_005263413.1:p.Ile165=
XM_011532420.1:c.495T>C
XP_011530722.1:p.Ile165=
NM_001257386.2:c.495T>C
NP_001244315.1:p.Ile165=
NM_001348985.1:c.495T>C
NP_001335914.1:p.Ile165=
NM_001348986.1:c.495T>C
NP_001335915.1:p.Ile165=
NM_001348987.1:c.495T>C
NP_001335916.1:p.Ile165=
NM_001348988.1:c.495T>C
NP_001335917.1:p.Ile165=
NM_001348989.1:c.495T>C
NP_001335918.1:p.Ile165=
XM_005263355.4:c.495T>C
XP_005263412.1:p.Ile165=
XM_011532420.3:c.495T>C
XP_011530722.1:p.Ile165=
XM_017008852.2:c.495T>C
XP_016864341.1:p.Ile165=
NM_004827.3:c.495T>C
MANE Select
NP_004818.2:p.Ile165=
NM_001348989.2:c.495T>C
NP_001335918.1:p.Ile165=