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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.150541575C>T , CM000667.2:g.150541575C>T
GRCh38
NC_000005.9:g.149921137C>T , CM000667.1:g.149921137C>T
GRCh37
NC_000005.8:g.149901330C>T
NCBI36
NG_041806.1:g.48798C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261797.7:c.1755C>T
MANE Select
ENSP00000261797.6:p.Pro585=
ENST00000261797.6:c.1755C>T
ENSP00000261797.6:p.Pro585=
ENST00000523767.5:c.1755C>T
ENSP00000428604.1:p.Pro585=
NM_001301063.1:c.1755C>T
NP_001287992.1:p.Pro585=
NM_001543.4:c.1755C>T
NP_001534.1:p.Pro585=
XM_005268433.1:c.1755C>T
XP_005268490.1:p.Pro585=
XM_005268434.1:c.1755C>T
XP_005268491.1:p.Pro585=
XM_005268435.3:c.1755C>T
XP_005268492.1:p.Pro585=
XM_005268436.2:c.1755C>T
XP_005268493.1:p.Pro585=
XM_005268437.3:c.1755C>T
XP_005268494.1:p.Pro585=
XM_005268438.1:c.1755C>T
XP_005268495.1:p.Pro585=
XM_005268439.1:c.1755C>T
XP_005268496.1:p.Pro585=
XM_005268442.2:c.483C>T
XP_005268499.1:p.Pro161=
XM_006714782.1:c.1755C>T
XP_006714845.1:p.Pro585=
XM_006714783.1:c.1755C>T
XP_006714846.1:p.Pro585=
XM_011537638.1:c.768C>T
XP_011535940.1:p.Pro256=
XR_245854.1:n.2233C>T
XM_005268434.2:c.1755C>T
XP_005268491.1:p.Pro585=
XM_005268435.4:c.1755C>T
XP_005268492.1:p.Pro585=
XM_005268436.3:c.1755C>T
XP_005268493.1:p.Pro585=
XM_005268437.5:c.1755C>T
XP_005268494.1:p.Pro585=
XM_005268442.4:c.483C>T
XP_005268499.1:p.Pro161=
XM_006714782.2:c.1755C>T
XP_006714845.1:p.Pro585=
XM_011537638.2:c.768C>T
XP_011535940.1:p.Pro256=
XM_017009427.1:c.1755C>T
XP_016864916.1:p.Pro585=
XM_017009428.1:c.1755C>T
XP_016864917.1:p.Pro585=
XM_017009429.2:c.1755C>T
XP_016864918.1:p.Pro585=
XM_017009430.2:c.1755C>T
XP_016864919.1:p.Pro585=
XM_017009431.1:c.1755C>T
XP_016864920.1:p.Pro585=
XM_017009432.1:c.768C>T
XP_016864921.1:p.Pro256=
XM_017009433.1:c.768C>T
XP_016864922.1:p.Pro256=
XR_001742060.2:n.2263C>T
XR_001742061.1:n.2852C>T
XR_245854.2:n.2233C>T
NM_001543.5:c.1755C>T
MANE Select
NP_001534.1:p.Pro585=
NM_001301063.2:c.1755C>T
NP_001287992.1:p.Pro585=