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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_000005.10:g.36876990G>A , CM000667.2:g.36876990G>A
GRCh38
NC_000005.9:g.36877092G>A , CM000667.1:g.36877092G>A
GRCh37
NC_000005.8:g.36912849G>A
NCBI36
NG_006987.1:g.5108G>A
NG_006987.2:g.5108G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000282516.13:c.-268G>A
MANE Select
ENSP00000282516.8:n.-268G>A
ENST00000652901.1:c.-268G>A
ENSP00000499536.1:n.-268G>A
ENST00000282516.12:c.-268G>A
ENSP00000282516.8:n.-268G>A
ENST00000448238.2:c.-268G>A
ENSP00000406266.2:n.-268G>A
NM_015384.4:c.-268G>A
NP_056199.2:n.-268G>A
NM_133433.3:c.-268G>A
NP_597677.2:n.-268G>A
XM_005248280.2:c.-268G>A
XP_005248337.1:n.-268G>A
XM_006714467.2:c.-268G>A
XP_006714530.1:n.-268G>A
XM_006714468.1:c.-268G>A
XP_006714531.1:n.-268G>A
XM_011514014.1:c.-268G>A
XP_011512316.1:n.-268G>A
XM_011514015.1:c.-268G>A
XP_011512317.1:n.-268G>A
XM_005248280.3:c.-268G>A
XP_005248337.1:n.-268G>A
XM_006714468.2:c.-268G>A
XP_006714531.1:n.-268G>A
XM_017009329.1:c.-268G>A
XP_016864818.1:n.-268G>A
XM_017009331.1:c.-268G>A
XP_016864820.1:n.-268G>A
NM_133433.4:c.-268G>A
MANE Select
NP_597677.2:n.-268G>A
NM_015384.5:c.-268G>A
NP_056199.2:n.-268G>A