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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.142314089G>A , CM000667.2:g.142314089G>A
GRCh38
NC_000005.9:g.141693654G>A , CM000667.1:g.141693654G>A
GRCh37
NC_000005.8:g.141673838G>A
NCBI36
NG_034148.1:g.15967C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000434127.3:c.*120C>T
MANE Select
ENSP00000399468.2:n.*120C>T
ENST00000643792.1:n.1702C>T
ENST00000344120.4:c.*120C>T
ENSP00000344967.4:n.*120C>T
ENST00000434127.2:c.*120C>T
ENSP00000399468.2:n.*120C>T
NM_001127496.1:c.*120C>T
NP_001120968.1:n.*120C>T
NM_001293289.1:c.*120C>T
NP_001280218.1:n.*120C>T
NM_001293290.1:c.*120C>T
NP_001280219.1:n.*120C>T
NM_030964.3:c.*120C>T
NP_112226.2:n.*120C>T
XM_011537685.1:c.*120C>T
XP_011535987.1:n.*120C>T
XM_011537685.3:c.*120C>T
XP_011535987.1:n.*120C>T
XM_017009910.2:c.*120C>T
XP_016865399.1:n.*120C>T
NM_001127496.2:c.*120C>T
NP_001120968.1:n.*120C>T
NM_001293289.2:c.*120C>T
NP_001280218.1:n.*120C>T
NM_001293290.2:c.*120C>T
NP_001280219.1:n.*120C>T
NM_030964.4:c.*120C>T
NP_112226.2:n.*120C>T
NM_001127496.3:c.*120C>T
MANE Select
NP_001120968.1:n.*120C>T
NM_001293289.3:c.*120C>T
NP_001280218.1:n.*120C>T
NM_001293290.3:c.*120C>T
NP_001280219.1:n.*120C>T
NM_030964.5:c.*120C>T
NP_112226.2:n.*120C>T