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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_000018.10:g.23539837T>G , CM000680.2:g.23539837T>G
GRCh38
NC_000018.9:g.21119801T>G , CM000680.1:g.21119801T>G
GRCh37
NC_000018.8:g.19373799T>G
NCBI36
NG_012795.1:g.51781A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000269228.10:c.2769A>C
MANE Select
ENSP00000269228.4:p.Ile923=
ENST00000269228.9:c.2769A>C
ENSP00000269228.4:p.Ile923=
ENST00000540608.5:n.2683A>C
ENST00000586718.1:n.560A>C
ENST00000591051.1:c.1847A>C
ENST00000591075.1:n.62A>C
NM_000271.4:c.2769A>C
NP_000262.2:p.Ile923=
XM_005258277.1:c.2820A>C
XP_005258334.1:p.Ile940=
XM_005258278.3:c.2820A>C
XP_005258335.1:p.Ile940=
XM_005258279.1:c.2769A>C
XP_005258336.1:p.Ile923=
XM_006722479.2:c.2820A>C
XP_006722542.1:p.Ile940=
XM_011526015.1:c.2355A>C
XP_011524317.1:p.Ile785=
XM_005258278.5:c.2820A>C
XP_005258335.1:p.Ile940=
XM_005258279.2:c.2769A>C
XP_005258336.1:p.Ile923=
XM_006722479.3:c.2820A>C
XP_006722542.1:p.Ile940=
XM_017025784.1:c.2820A>C
XP_016881273.1:p.Ile940=
XM_017025785.1:c.2820A>C
XP_016881274.1:p.Ile940=
XM_017025786.1:c.2769A>C
XP_016881275.1:p.Ile923=
XM_017025787.1:c.2769A>C
XP_016881276.1:p.Ile923=
NM_000271.5:c.2769A>C
MANE Select
NP_000262.2:p.Ile923=