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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.209776023G>C , CM000664.2:g.209776023G>C
GRCh38
NC_000002.11:g.210640747G>C , CM000664.1:g.210640747G>C
GRCh37
NC_000002.10:g.210348992G>C
NCBI36
NG_051361.1:g.9099G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000673920.1:c.276G>C
MANE Select
ENSP00000501211.1:p.Leu92=
ENST00000673951.1:c.276G>C
ENSP00000501012.1:p.Leu92=
ENST00000272845.10:c.276G>C
ENSP00000272845.5:p.Leu92=
ENST00000439458.5:c.276G>C
ENSP00000391088.1:p.Leu92=
ENST00000478701.1:n.356G>C
NM_032504.1:c.276G>C
NP_115893.1:p.Leu92=
NM_182587.3:c.276G>C
NP_872393.3:p.Leu92=
XM_005246476.1:c.276G>C
XP_005246533.1:p.Leu92=
XM_011511004.1:c.276G>C
XP_011509306.1:p.Leu92=
XM_011511005.1:c.276G>C
XP_011509307.1:p.Leu92=
XM_011511006.1:c.276G>C
XP_011509308.1:p.Leu92=
XM_011511007.1:c.276G>C
XP_011509309.1:p.Leu92=
XM_011511008.1:c.276G>C
XP_011509310.1:p.Leu92=
XM_011511009.1:c.276G>C
XP_011509311.1:p.Leu92=
XM_011511010.1:c.276G>C
XP_011509312.1:p.Leu92=
XM_011511011.1:c.276G>C
XP_011509313.1:p.Leu92=
XM_011511012.1:c.276G>C
XP_011509314.1:p.Leu92=
XM_011511010.2:c.276G>C
XP_011509312.1:p.Leu92=
XM_017003884.1:c.276G>C
XP_016859373.1:p.Leu92=
XM_017003885.1:c.276G>C
XP_016859374.1:p.Leu92=
XM_017003886.1:c.276G>C
XP_016859375.1:p.Leu92=
XM_017003887.1:c.276G>C
XP_016859376.1:p.Leu92=
XM_017003888.1:c.276G>C
XP_016859377.1:p.Leu92=
XM_017003889.1:c.276G>C
XP_016859378.1:p.Leu92=
XM_017003890.1:c.276G>C
XP_016859379.1:p.Leu92=
XM_017003891.1:c.-79G>C
XP_016859380.1:n.-79G>C
XM_017003893.1:c.276G>C
XP_016859382.1:p.Leu92=
XR_002959283.1:n.356G>C
NM_001371986.1:c.276G>C
MANE Select
NP_001358915.1:p.Leu92=
NM_182587.4:c.276G>C
NP_872393.3:p.Leu92=
NM_032504.2:c.276G>C
NP_115893.1:p.Leu92=