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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_000002.12:g.108753515T>A , CM000664.2:g.108753515T>A
GRCh38
NC_000002.11:g.109369971T>A , CM000664.1:g.109369971T>A
GRCh37
NC_000002.10:g.108736403T>A
NCBI36
NG_012210.1:g.39035T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000697737.1:c.2007T>A
ENSP00000513426.1:p.Thr669=
ENST00000697740.1:c.1929T>A
ENSP00000513427.1:p.Thr643=
ENST00000283195.11:c.2007T>A
MANE Select
ENSP00000283195.6:p.Thr669=
ENST00000283195.10:c.2007T>A
ENSP00000283195.6:p.Thr669=
NM_006267.4:c.2007T>A
NP_006258.3:p.Thr669=
XM_005264002.1:c.2007T>A
XP_005264059.1:p.Thr669=
XM_005264003.1:c.2007T>A
XP_005264060.1:p.Thr669=
XM_005264004.1:c.2007T>A
XP_005264061.1:p.Thr669=
XM_005264005.3:c.1929T>A
XP_005264062.1:p.Thr643=
XM_005264007.1:c.2007T>A
XP_005264064.1:p.Thr669=
XM_011511575.1:c.2004T>A
XP_011509877.1:p.Thr668=
XM_011511576.1:c.2007T>A
XP_011509878.1:p.Thr669=
XM_011511578.1:c.2004T>A
XP_011509880.1:p.Thr668=
XM_005264002.3:c.2007T>A
XP_005264059.1:p.Thr669=
XM_005264003.3:c.2007T>A
XP_005264060.1:p.Thr669=
XM_005264004.3:c.2007T>A
XP_005264061.1:p.Thr669=
XM_005264005.4:c.1929T>A
XP_005264062.1:p.Thr643=
XM_005264007.3:c.2007T>A
XP_005264064.1:p.Thr669=
XM_011511575.2:c.2004T>A
XP_011509877.1:p.Thr668=
XM_011511576.3:c.2007T>A
XP_011509878.1:p.Thr669=
XM_011511578.2:c.2004T>A
XP_011509880.1:p.Thr668=
XM_017004623.2:c.2007T>A
XP_016860112.1:p.Thr669=
XM_017004624.2:c.2007T>A
XP_016860113.1:p.Thr669=
XM_017004625.1:c.2007T>A
XP_016860114.1:p.Thr669=
NM_006267.5:c.2007T>A
MANE Select
NP_006258.3:p.Thr669=