×
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.154465332A>G , CM000663.2:g.154465332A>G
GRCh38
NC_000001.10:g.154437808A>G , CM000663.1:g.154437808A>G
GRCh37
NC_000001.9:g.152704432A>G
NCBI36
NG_012087.1:g.65140A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368485.8:c.1359A>G
MANE Select
ENSP00000357470.3:p.Pro453=
ENST00000344086.8:c.*167A>G
ENSP00000340589.4:n.*167A>G
ENST00000368485.7:c.1359A>G
ENSP00000357470.3:p.Pro453=
NM_000565.3:c.1359A>G
NP_000556.1:p.Pro453=
NM_181359.2:c.*167A>G
NP_852004.1:n.*167A>G
XM_005245139.1:c.*40A>G
XP_005245196.1:n.*40A>G
XM_005245140.1:c.*200A>G
XP_005245197.1:n.*200A>G
XM_006711298.1:c.1407A>G
XP_006711361.1:p.Pro469=
XM_005245139.2:c.*40A>G
XP_005245196.1:n.*40A>G
XM_005245140.3:c.*200A>G
XP_005245197.1:n.*200A>G
XM_006711298.2:c.1407A>G
XP_006711361.1:p.Pro469=
XM_017001199.2:c.1506A>G
XP_016856688.1:p.Pro502=
XM_017001200.2:c.1458A>G
XP_016856689.1:p.Pro486=
XM_017001201.2:c.*200A>G
XP_016856690.1:n.*200A>G
NM_000565.4:c.1359A>G
MANE Select
NP_000556.1:p.Pro453=
NM_181359.3:c.*167A>G
NP_852004.1:n.*167A>G
NM_001382769.1:c.1458A>G
NP_001369698.1:p.Pro486=
NM_001382770.1:c.1452A>G
NP_001369699.1:p.Pro484=
NM_001382771.1:c.1407A>G
NP_001369700.1:p.Pro469=
NM_001382772.1:c.1353A>G
NP_001369701.1:p.Pro451=
NM_001382773.1:c.*167A>G
NP_001369702.1:n.*167A>G
NM_001382774.1:c.999A>G
NP_001369703.1:p.Pro333=