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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_000023.11:g.108440133T>C , CM000685.2:g.108440133T>C
GRCh38
NC_000023.10:g.107683363T>C , CM000685.1:g.107683363T>C
GRCh37
NC_000023.9:g.107570019T>C
NCBI36
NG_011977.1:g.5210T>C
NG_012059.2:g.4342A>G
NG_011977.2:g.5210T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000328300.11:c.8T>C
MANE Select
ENSP00000331902.7:p.Leu3Pro
ENST00000361603.7:c.8T>C
ENSP00000354505.2:p.Leu3Pro
ENST00000642185.1:c.8T>C
ENSP00000495101.1:p.Leu3Pro
ENST00000328300.10:c.8T>C
ENSP00000331902.6:p.Leu3Pro
ENST00000361603.6:c.8T>C
ENSP00000354505.2:p.Leu3Pro
ENST00000470339.1:n.192T>C
ENST00000477429.1:n.290T>C
NM_000495.4:c.8T>C
NP_000486.1:p.Leu3Pro
NM_033380.2:c.8T>C
NP_203699.1:p.Leu3Pro
XM_005262070.2:c.8T>C
XP_005262127.1:p.Leu3Pro
XM_005262072.3:c.8T>C
XP_005262129.1:p.Leu3Pro
XM_006724616.2:c.8T>C
XP_006724679.1:p.Leu3Pro
XM_011530850.1:c.8T>C
XP_011529152.1:p.Leu3Pro
NM_000495.5:c.8T>C
NP_000486.1:p.Leu3Pro
NM_033380.3:c.8T>C
MANE Select
NP_203699.1:p.Leu3Pro