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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_000006.12:g.57190214C>T , CM000668.2:g.57190214C>T
GRCh38
NC_000006.11:g.57055012C>T , CM000668.1:g.57055012C>T
GRCh37
NC_000006.10:g.57162971C>T
NCBI36
NG_012170.1:g.37067G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000468148.6:c.*247G>A
MANE Select
ENSP00000417610.1:n.*247G>A
ENST00000317483.4:c.*247G>A
ENSP00000320413.3:n.*247G>A
ENST00000468148.5:c.*247G>A
ENSP00000417610.1:n.*247G>A
NM_001278666.1:c.*247G>A
NP_001265595.1:n.*247G>A
NM_001278667.1:c.*247G>A
NP_001265596.1:n.*247G>A
NM_001278668.1:c.*247G>A
NP_001265597.1:n.*247G>A
NM_016277.4:c.*247G>A
NP_057361.3:n.*247G>A
NM_183227.2:c.*247G>A
NP_899050.1:n.*247G>A
NR_103822.1:n.820G>A
NM_016277.5:c.*247G>A
MANE Select
NP_057361.3:n.*247G>A
NM_001278666.2:c.*247G>A
NP_001265595.1:n.*247G>A
NM_001278667.2:c.*247G>A
NP_001265596.1:n.*247G>A
NM_001278668.2:c.*247G>A
NP_001265597.1:n.*247G>A
NM_183227.3:c.*247G>A
NP_899050.1:n.*247G>A
NR_103822.2:n.813G>A