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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_000007.14:g.5641304G>C , CM000669.2:g.5641304G>C
GRCh38
NC_000007.13:g.5680935G>C , CM000669.1:g.5680935G>C
GRCh37
NC_000007.12:g.5647461G>C
NCBI36
NG_029374.1:g.145427C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000389902.8:c.2232C>G
MANE Select
ENSP00000374552.3:p.Gly744=
ENST00000389900.8:c.*1349C>G
ENSP00000374550.4:n.*1349C>G
ENST00000389902.7:c.2232C>G
ENSP00000374552.3:p.Gly744=
ENST00000425013.6:c.2061C>G
ENSP00000404602.2:p.Gly687=
ENST00000469375.1:n.449C>G
NM_207111.3:c.2232C>G
NP_996994.1:p.Gly744=
NM_207116.2:c.2061C>G
NP_996999.1:p.Gly687=
XM_005249785.2:c.2232C>G
XP_005249842.1:p.Gly744=
XM_006715748.1:c.927C>G
XP_006715811.1:p.Gly309=
XM_011515434.1:c.2232C>G
XP_011513736.1:p.Gly744=
XM_011515436.1:c.927C>G
XP_011513738.1:p.Gly309=
XM_011515436.2:c.927C>G
XP_011513738.1:p.Gly309=
XM_017012363.2:c.2061C>G
XP_016867852.1:p.Gly687=
XM_024446805.1:c.2232C>G
XP_024302573.1:p.Gly744=
XM_024446806.1:c.927C>G
XP_024302574.1:p.Gly309=
XM_024446807.1:c.927C>G
XP_024302575.1:p.Gly309=
NM_001377156.1:c.2061C>G
NP_001364085.1:p.Gly687=
NM_207111.4:c.2232C>G
MANE Select
NP_996994.1:p.Gly744=
NM_207116.3:c.2061C>G
NP_996999.1:p.Gly687=