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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_000016.10:g.30987907C>A , CM000678.2:g.30987907C>A
GRCh38
NC_000016.9:g.30999228C>A , CM000678.1:g.30999228C>A
GRCh37
NC_000016.8:g.30906729C>A
NCBI36
NG_012346.1:g.7710C>A
NG_041829.1:g.27602G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000297679.10:c.834C>A
MANE Select
ENSP00000297679.5:p.Pro278=
ENST00000262520.10:c.*80C>A
ENSP00000262520.6:n.*80C>A
ENST00000297679.9:c.834C>A
ENSP00000297679.5:p.Pro278=
NM_001142777.1:c.*80C>A
NP_001136249.1:n.*80C>A
NM_001142778.1:c.*80C>A
NP_001136250.1:n.*80C>A
NM_025193.3:c.834C>A
NP_079469.2:p.Pro278=
XM_005255601.3:c.834C>A
XP_005255658.2:p.Pro278=
XM_011545960.1:c.834C>A
XP_011544262.1:p.Pro278=
XM_011545961.1:c.834C>A
XP_011544263.1:p.Pro278=
XM_011545962.1:c.*80C>A
XP_011544264.1:n.*80C>A
XM_011545960.2:c.834C>A
XP_011544262.1:p.Pro278=
XM_011545962.2:c.*80C>A
XP_011544264.1:n.*80C>A
XM_017023732.1:c.*80C>A
XP_016879221.1:n.*80C>A
NM_025193.4:c.834C>A
MANE Select
NP_079469.2:p.Pro278=
NM_001142777.2:c.*80C>A
NP_001136249.1:n.*80C>A
NM_001142778.2:c.*80C>A
NP_001136250.1:n.*80C>A