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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_000019.10:g.46755445G= , CM000681.2:g.46755445G=
GRCh38
NC_000019.9:g.47258702G= , CM000681.1:g.47258702G=
GRCh37
NC_000019.8:g.51950542G=
NCBI36
NG_008898.2:g.14400G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000318584.10:c.-6G=
MANE Select
ENSP00000326570.4:n.-6G=
ENST00000318584.9:c.-6G=
ENSP00000326570.4:n.-6G=
ENST00000391909.7:c.-6G=
ENSP00000375776.2:n.-6G=
ENST00000593800.5:c.-6G=
ENSP00000471209.1:n.-6G=
ENST00000593875.5:c.-6G=
ENSP00000470297.1:n.-6G=
ENST00000593877.1:c.-6G=
ENSP00000472850.1:n.-6G=
ENST00000593902.1:c.-6G=
ENSP00000470901.1:n.-6G=
ENST00000594467.5:c.-345-90G=
ENSP00000471971.1:n.-345-90G=
ENST00000595570.5:c.-6G=
ENSP00000470929.1:n.-6G=
ENST00000595868.5:c.-6G=
ENSP00000471573.1:n.-6G=
ENST00000596460.5:c.-6G=
ENSP00000469373.1:n.-6G=
ENST00000596974.5:n.311-90G=
ENST00000597313.5:c.-6G=
ENSP00000472370.1:n.-6G=
ENST00000597339.5:n.247-6388G=
ENST00000598271.5:c.-6G=
ENSP00000471088.1:n.-6G=
ENST00000600005.5:c.-6G=
ENSP00000470335.1:n.-6G=
ENST00000600227.5:c.-6G=
ENSP00000468825.1:n.-6G=
ENST00000600629.5:c.-6G=
ENSP00000470096.1:n.-6G=
ENST00000600646.5:n.247+6780G=
ENST00000600834.5:c.-6G=
ENSP00000470024.1:n.-6G=
ENST00000600977.5:n.572G=
ENST00000601299.5:c.-6G=
ENSP00000470103.1:n.-6G=
ENST00000602181.5:c.-6G=
ENSP00000472981.1:n.-6G=
ENST00000602250.5:c.-6G=
ENSP00000472807.1:n.-6G=
NM_001039885.2:c.-6G=
NP_001034974.1:n.-6G=
NM_024301.4:c.-6G=
NP_077277.1:n.-6G=
XM_005259247.1:c.-6G=
XP_005259304.1:n.-6G=
XM_005259248.1:c.-6G=
XP_005259305.1:n.-6G=
XM_005259249.3:c.-6G=
XP_005259306.1:n.-6G=
XM_005259250.3:c.-6G=
XP_005259307.1:n.-6G=
XM_011527301.1:c.-6G=
XP_011525603.1:n.-6G=
XM_011527302.1:c.-6G=
XP_011525604.1:n.-6G=
XM_011527303.1:c.-6G=
XP_011525605.1:n.-6G=
XM_011527304.1:c.-6G=
XP_011525606.1:n.-6G=
XM_011527305.1:c.-6G=
XP_011525607.1:n.-6G=
XM_011527306.1:c.-6G=
XP_011525608.1:n.-6G=
XM_011527307.1:c.-6G=
XP_011525609.1:n.-6G=
XM_005259247.2:c.-6G=
XP_005259304.1:n.-6G=
XM_005259248.2:c.-6G=
XP_005259305.1:n.-6G=
XM_005259249.4:c.-6G=
XP_005259306.1:n.-6G=
XM_011527306.2:c.-6G=
XP_011525608.1:n.-6G=
XM_017027297.2:c.-6G=
XP_016882786.1:n.-6G=
XM_024451707.1:c.-6G=
XP_024307475.1:n.-6G=
NM_001039885.3:c.-6G=
NP_001034974.1:n.-6G=
NM_024301.5:c.-6G=
MANE Select
NP_077277.1:n.-6G=