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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_000004.12:g.186285650T>G , CM000666.2:g.186285650T>G
GRCh38
NC_000004.11:g.187206804T>G , CM000666.1:g.187206804T>G
GRCh37
NC_000004.10:g.187443798T>G
NCBI36
NG_008051.1:g.24687T>G , LRG_583:g.24687T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1317T>G
MANE Select
ENSP00000384957.2:p.Pro439=
ENST00000264691.4:c.13T>G
ENST00000264692.8:c.1155T>G
ENSP00000264692.5:p.Pro385=
ENST00000403665.6:c.1317T>G
ENSP00000384957.2:p.Pro439=
NM_000128.3:c.1317T>G , LRG_583t1:c.1317T>G
NP_000119.1:p.Pro439=
XM_005262821.2:c.1320T>G
XP_005262878.1:p.Pro440=
XM_005262822.2:c.1320T>G
XP_005262879.1:p.Pro440=
XM_005262823.2:c.1050T>G
XP_005262880.1:p.Pro350=
XM_005262824.1:c.1320T>G
XP_005262881.1:p.Pro440=
XM_006714137.1:c.1272T>G
XP_006714200.1:p.Pro424=
XR_938706.1:n.1725T>G
XR_938707.1:n.1725T>G
XM_005262821.4:c.1320T>G
XP_005262878.1:p.Pro440=
XM_005262822.4:c.1320T>G
XP_005262879.1:p.Pro440=
XM_005262823.4:c.1050T>G
XP_005262880.1:p.Pro350=
XM_006714137.3:c.1272T>G
XP_006714200.1:p.Pro424=
XR_001741172.2:n.1791T>G
NM_000128.4:c.1317T>G
MANE Select
NP_000119.1:p.Pro439=