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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_000002.12:g.25742024T= , CM000664.2:g.25742024T=
GRCh38
NC_000002.11:g.25964893T= , CM000664.1:g.25964893T=
GRCh37
NC_000002.10:g.25818397T=
NCBI36
NG_052995.1:g.141493A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000336112.9:c.*5A=
ENSP00000337250.5:n.*5A=
ENST00000435504.9:c.*5A=
MANE Select
ENSP00000391447.3:n.*5A=
ENST00000336112.8:c.*5A=
ENSP00000337250.4:n.*5A=
ENST00000404843.5:c.*5A=
ENSP00000383920.1:n.*5A=
ENST00000435504.8:c.*5A=
ENSP00000391447.3:n.*5A=
NM_018263.4:c.*5A=
NP_060733.4:n.*5A=
XM_006712039.2:c.*5A=
XP_006712102.1:n.*5A=
XM_006712040.1:c.*5A=
XP_006712103.1:n.*5A=
XM_011532950.1:c.*5A=
XP_011531252.1:n.*5A=
XM_011532951.1:c.*5A=
XP_011531253.1:n.*5A=
NM_018263.5:c.*5A=
NP_060733.4:n.*5A=
XM_006712039.3:c.*5A=
XP_006712102.1:n.*5A=
XM_006712040.2:c.*5A=
XP_006712103.1:n.*5A=
XM_011532950.3:c.*5A=
XP_011531252.1:n.*5A=
XM_011532951.2:c.*5A=
XP_011531253.1:n.*5A=
XM_017004430.1:c.*5A=
XP_016859919.1:n.*5A=
XM_024452974.1:c.*5A=
XP_024308742.1:n.*5A=
NM_001369346.1:c.*5A=
NP_001356275.1:n.*5A=
NM_001369347.1:c.*5A=
NP_001356276.1:n.*5A=
NM_018263.6:c.*5A=
MANE Select
NP_060733.4:n.*5A=