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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_000001.11:g.154465266G>T , CM000663.2:g.154465266G>T
GRCh38
NC_000001.10:g.154437742G>T , CM000663.1:g.154437742G>T
GRCh37
NC_000001.9:g.152704366G>T
NCBI36
NG_012087.1:g.65074G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368485.8:c.1293G>T
MANE Select
ENSP00000357470.3:p.Pro431=
ENST00000344086.8:c.*101G>T
ENSP00000340589.4:n.*101G>T
ENST00000368485.7:c.1293G>T
ENSP00000357470.3:p.Pro431=
ENST00000507256.1:n.491G>T
NM_000565.3:c.1293G>T
NP_000556.1:p.Pro431=
NM_181359.2:c.*101G>T
NP_852004.1:n.*101G>T
XM_005245139.1:c.1057G>T
XP_005245196.1:p.Gly353Cys
XM_005245140.1:c.*134G>T
XP_005245197.1:n.*134G>T
XM_006711298.1:c.1341G>T
XP_006711361.1:p.Pro447=
XM_005245139.2:c.1057G>T
XP_005245196.1:p.Gly353Cys
XM_005245140.3:c.*134G>T
XP_005245197.1:n.*134G>T
XM_006711298.2:c.1341G>T
XP_006711361.1:p.Pro447=
XM_017001199.2:c.1440G>T
XP_016856688.1:p.Pro480=
XM_017001200.2:c.1392G>T
XP_016856689.1:p.Pro464=
XM_017001201.2:c.*134G>T
XP_016856690.1:n.*134G>T
NM_000565.4:c.1293G>T
MANE Select
NP_000556.1:p.Pro431=
NM_181359.3:c.*101G>T
NP_852004.1:n.*101G>T
NM_001382769.1:c.1392G>T
NP_001369698.1:p.Pro464=
NM_001382770.1:c.1386G>T
NP_001369699.1:p.Pro462=
NM_001382771.1:c.1341G>T
NP_001369700.1:p.Pro447=
NM_001382772.1:c.1287G>T
NP_001369701.1:p.Pro429=
NM_001382773.1:c.*101G>T
NP_001369702.1:n.*101G>T
NM_001382774.1:c.933G>T
NP_001369703.1:p.Pro311=