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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_000015.10:g.42731298C>T , CM000677.2:g.42731298C>T
GRCh38
NC_000015.9:g.43023496C>T , CM000677.1:g.43023496C>T
GRCh37
NC_000015.8:g.40810788C>T
NCBI36
NG_012491.1:g.10922G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356231.4:c.1773G>A
MANE Select
ENSP00000348564.3:p.Leu591=
ENST00000643434.1:c.*951G>A
ENSP00000494699.1:n.*951G>A
ENST00000356231.3:c.1773G>A
ENSP00000348564.3:p.Leu591=
NM_138477.2:c.1773G>A
NP_612486.2:p.Leu591=
XM_005254176.3:c.1776G>A
XP_005254233.1:p.Leu592=
XM_011521270.1:c.1800G>A
XP_011519572.1:p.Leu600=
XM_011521271.1:c.1797G>A
XP_011519573.1:p.Leu599=
XM_011521272.1:c.1800G>A
XP_011519574.1:p.Leu600=
XM_011521273.1:c.1800G>A
XP_011519575.1:p.Leu600=
XM_011521274.1:c.765G>A
XP_011519576.1:p.Leu255=
XM_011521275.1:c.1017G>A
XP_011519577.1:p.Leu339=
XR_931757.1:n.1811G>A
NM_138477.4:c.1773G>A
MANE Select
NP_612486.2:p.Leu591=
XM_005254176.5:c.1776G>A
XP_005254233.1:p.Leu592=
XM_011521270.2:c.1800G>A
XP_011519572.1:p.Leu600=
XM_011521271.2:c.1797G>A
XP_011519573.1:p.Leu599=
XM_011521274.2:c.765G>A
XP_011519576.1:p.Leu255=
XR_001751104.1:n.1830G>A
XR_001751105.1:n.1830G>A
XR_931757.2:n.1831G>A