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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.141647482G= , CM000667.2:g.141647482G=
GRCh38
NC_000005.9:g.141027049G= , CM000667.1:g.141027049G=
GRCh37
NC_000005.8:g.141007233G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000435817.7:c.744C=
MANE Select
ENSP00000399259.2:p.Pro248=
ENST00000435817.6:c.744C=
ENSP00000399259.2:p.Pro248=
ENST00000522126.5:c.516C=
ENSP00000427796.1:p.Pro172=
ENST00000522386.1:n.350C=
ENST00000522763.5:n.48C=
ENST00000522783.5:c.738C=
ENSP00000428677.1:p.Pro246=
ENST00000523856.5:n.2C=
NM_033449.2:c.744C=
NP_258260.1:p.Pro248=
XM_005268524.3:c.738C=
XP_005268581.1:p.Pro246=
XM_006714803.2:c.615C=
XP_006714866.1:p.Pro205=
XM_011537698.1:c.744C=
XP_011536000.1:p.Pro248=
XM_011537699.1:c.744C=
XP_011536001.1:p.Pro248=
XM_011537700.1:c.744C=
XP_011536002.1:p.Pro248=
XM_011537701.1:c.744C=
XP_011536003.1:p.Pro248=
XR_427781.2:n.798C=
XR_944338.1:n.804C=
XR_944339.1:n.804C=
XM_005268524.5:c.738C=
XP_005268581.1:p.Pro246=
XM_006714803.4:c.615C=
XP_006714866.1:p.Pro205=
XM_011537698.3:c.744C=
XP_011536000.1:p.Pro248=
XM_011537700.3:c.744C=
XP_011536002.1:p.Pro248=
XM_011537701.3:c.744C=
XP_011536003.1:p.Pro248=
XM_017010013.2:c.744C=
XP_016865502.1:p.Pro248=
XR_002956197.1:n.740C=
XR_427781.4:n.740C=
XR_944338.3:n.819C=
XR_944339.3:n.819C=
NM_033449.3:c.744C=
MANE Select
NP_258260.1:p.Pro248=