×
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_000019.10:g.18059972T>A , CM000681.2:g.18059972T>A
GRCh38
NC_000019.9:g.18170782T>A , CM000681.1:g.18170782T>A
GRCh37
NC_000019.8:g.18031782T>A
NCBI36
NG_007366.2:g.43978A>T , LRG_72:g.43978A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000593993.7:c.1905A>T
MANE Select
ENSP00000472165.2:p.Thr635=
ENST00000593993.6:c.1905A>T
ENSP00000472165.2:p.Thr635=
ENST00000600835.6:c.1905A>T
ENSP00000470788.1:p.Thr635=
NM_001290023.1:c.1905A>T
NP_001276952.1:p.Thr635=
NM_001290024.1:c.2025A>T
NP_001276953.1:p.Thr675=
NM_005535.2:c.1905A>T
NP_005526.1:p.Thr635=
XM_006722741.2:c.2025A>T
XP_006722804.2:p.Thr675=
XM_011527966.1:c.2058A>T
XP_011526268.1:p.Thr686=
XM_011527967.1:c.2046A>T
XP_011526269.1:p.Thr682=
XM_011527968.1:c.2037A>T
XP_011526270.1:p.Thr679=
XM_011527969.1:c.2025A>T
XP_011526271.1:p.Thr675=
XM_011527970.1:c.2058A>T
XP_011526272.1:p.Thr686=
XM_011527971.1:c.2058A>T
XP_011526273.1:p.Thr686=
XM_011527972.1:c.2058A>T
XP_011526274.1:p.Thr686=
XM_011527973.1:c.1938A>T
XP_011526275.1:p.Thr646=
XM_011527974.1:c.1926A>T
XP_011526276.1:p.Thr642=
XM_011527975.1:c.2025A>T
XP_011526277.1:p.Thr675=
XM_006722741.3:c.2025A>T
XP_006722804.2:p.Thr675=
XM_011527966.2:c.2058A>T
XP_011526268.1:p.Thr686=
XM_011527967.2:c.2046A>T
XP_011526269.1:p.Thr682=
XM_011527968.3:c.2037A>T
XP_011526270.1:p.Thr679=
XM_011527969.2:c.2025A>T
XP_011526271.1:p.Thr675=
XM_011527970.2:c.2058A>T
XP_011526272.1:p.Thr686=
XM_011527971.3:c.2058A>T
XP_011526273.1:p.Thr686=
XM_011527972.3:c.2058A>T
XP_011526274.1:p.Thr686=
XM_011527973.2:c.1938A>T
XP_011526275.1:p.Thr646=
XM_011527974.2:c.1926A>T
XP_011526276.1:p.Thr642=
XM_011527975.2:c.2025A>T
XP_011526277.1:p.Thr675=
XM_017026762.1:c.1323A>T
XP_016882251.1:p.Thr441=
NM_001290023.2:c.1905A>T
NP_001276952.1:p.Thr635=
NM_005535.3:c.1905A>T
MANE Select
NP_005526.1:p.Thr635=