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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_000003.12:g.77649223T= , CM000665.2:g.77649223T=
GRCh38
NC_000003.11:g.77698374T= , CM000665.1:g.77698374T=
GRCh37
NC_000003.10:g.77781064T=
NCBI36
NG_027734.1:g.1747530T=
NG_027734.2:g.1747530T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000696593.1:c.*3168T=
MANE Select
ENSP00000512738.1:n.*3168T=
ENST00000461745.5:c.*3168T=
ENSP00000417164.1:n.*3168T=
ENST00000470802.1:n.9293T=
ENST00000614793.4:c.6921T=
ENSP00000480344.1:n.6921T=
NM_001128929.3:c.*3168T=
NP_001122401.1:n.*3168T=
NM_001290039.1:c.*3168T=
NP_001276968.1:n.*3168T=
NM_001290040.1:c.*3168T=
NP_001276969.1:n.*3168T=
NM_001290065.1:c.*3168T=
NP_001276994.1:n.*3168T=
NM_002942.4:c.*3168T=
NP_002933.1:n.*3168T=
XM_011533981.1:c.*3165T=
XP_011532283.1:n.*3165T=
XM_011533982.1:c.*3168T=
XP_011532284.1:n.*3168T=
XM_011533983.1:c.*3168T=
XP_011532285.1:n.*3168T=
XM_011533984.1:c.*3168T=
XP_011532286.1:n.*3168T=
XM_011533985.1:c.*3168T=
XP_011532287.1:n.*3168T=
XM_011533981.2:c.*3165T=
XP_011532283.1:n.*3165T=
XM_017006986.1:c.*3168T=
XP_016862475.1:n.*3168T=
XM_017006987.1:c.*3168T=
XP_016862476.1:n.*3168T=
XM_017006988.1:c.*3165T=
XP_016862477.1:n.*3165T=
XM_017006989.1:c.*3168T=
XP_016862478.1:n.*3168T=
XM_017006990.1:c.*3168T=
XP_016862479.1:n.*3168T=
XM_017006991.1:c.*3168T=
XP_016862480.1:n.*3168T=
XM_017006992.1:c.*3168T=
XP_016862481.1:n.*3168T=
XM_017006993.1:c.*3168T=
XP_016862482.1:n.*3168T=
XM_017006994.1:c.*3165T=
XP_016862483.1:n.*3165T=
XM_017006995.1:c.*3165T=
XP_016862484.1:n.*3165T=
XM_017006996.1:c.*3168T=
XP_016862485.1:n.*3168T=
XM_017006997.1:c.*3165T=
XP_016862486.1:n.*3165T=
XM_017006998.1:c.*3168T=
XP_016862487.1:n.*3168T=
XM_017006999.1:c.*3165T=
XP_016862488.1:n.*3165T=
XM_017007000.1:c.*3168T=
XP_016862489.1:n.*3168T=
XM_017007001.1:c.*3165T=
XP_016862490.1:n.*3165T=
XM_017007002.1:c.*3168T=
XP_016862491.1:n.*3168T=
XM_017007003.1:c.*3168T=
XP_016862492.1:n.*3168T=
XM_017007004.1:c.*3168T=
XP_016862493.1:n.*3168T=
XM_017007005.1:c.*3165T=
XP_016862494.1:n.*3165T=
XM_017007006.1:c.*3168T=
XP_016862495.1:n.*3168T=
NM_001290039.2:c.*3168T=
NP_001276968.1:n.*3168T=
NM_001290040.2:c.*3168T=
NP_001276969.1:n.*3168T=
NM_001290065.2:c.*3168T=
NP_001276994.1:n.*3168T=
NM_002942.5:c.*3168T=
NP_002933.1:n.*3168T=
NM_001378190.1:c.*3168T=
NP_001365119.1:n.*3168T=
NM_001378191.1:c.*3168T=
NP_001365120.1:n.*3168T=
NM_001378192.1:c.*3168T=
NP_001365121.1:n.*3168T=
NM_001378193.1:c.*3168T=
NP_001365122.1:n.*3168T=
NM_001378194.1:c.*3165T=
NP_001365123.1:n.*3165T=
NM_001378195.1:c.*3168T=
NP_001365124.1:n.*3168T=
NM_001378196.1:c.*3165T=
NP_001365125.1:n.*3165T=
NM_001378197.1:c.*3168T=
NP_001365126.1:n.*3168T=
NM_001378198.1:c.*3168T=
NP_001365127.1:n.*3168T=
NM_001378199.1:c.*3165T=
NP_001365128.1:n.*3165T=
NM_001378200.1:c.*3168T=
NP_001365129.1:n.*3168T=
NM_001378201.1:c.*3165T=
NP_001365130.1:n.*3165T=
NM_001378202.1:c.*3168T=
NP_001365131.1:n.*3168T=
NM_001378203.1:c.*3165T=
NP_001365132.1:n.*3165T=
NM_001394212.1:c.*3168T=
NP_001381141.1:n.*3168T=
NM_001394213.1:c.*3168T=
NP_001381142.1:n.*3168T=
NM_001394214.1:c.*3168T=
NP_001381143.1:n.*3168T=
NM_001395656.1:c.*3168T=
MANE Select
NP_001382585.1:n.*3168T=
NM_001395657.1:c.*3165T=
NP_001382586.1:n.*3165T=