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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.235052570G>A , CM000664.2:g.235052570G>A
GRCh38
NC_000002.11:g.235961214G>A , CM000664.1:g.235961214G>A
GRCh37
NC_000002.10:g.235625953G>A
NCBI36
NG_033930.1:g.105587G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000392011.7:c.2487G>A
MANE Select
ENSP00000375867.2:p.Leu829=
ENST00000344528.8:c.2487G>A
ENSP00000340237.4:p.Leu829=
ENST00000392011.6:c.2487G>A
ENSP00000375867.2:p.Leu829=
ENST00000409212.5:c.2487G>A
ENSP00000386862.1:p.Leu829=
NM_014521.2:c.2487G>A
NP_055336.1:p.Leu829=
XM_011510891.1:c.2487G>A
XP_011509193.1:p.Leu829=
XM_011510892.1:c.2487G>A
XP_011509194.1:p.Leu829=
XM_011510893.1:c.2487G>A
XP_011509195.1:p.Leu829=
XM_011510894.1:c.2487G>A
XP_011509196.1:p.Leu829=
XM_011510891.2:c.2487G>A
XP_011509193.1:p.Leu829=
XM_011510894.2:c.2487G>A
XP_011509196.1:p.Leu829=
NM_014521.3:c.2487G>A
MANE Select
NP_055336.1:p.Leu829=
NM_001371302.1:c.2487G>A
NP_001358231.1:p.Leu829=
NM_001371303.1:c.2487G>A
NP_001358232.1:p.Leu829=
NM_001371304.1:c.2487G>A
NP_001358233.1:p.Leu829=
NM_001371305.1:c.2487G>A
NP_001358234.1:p.Leu829=
NM_001371306.1:c.2487G>A
NP_001358235.1:p.Leu829=