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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.3810659A>G , CM000678.2:g.3810659A>G
GRCh38
NC_000016.9:g.3860660A>G , CM000678.1:g.3860660A>G
GRCh37
NC_000016.8:g.3800661A>G
NCBI36
NG_009873.1:g.74462T>C
NG_009873.2:g.75055T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262367.10:c.919T>C
MANE Select
ENSP00000262367.5:p.Leu307=
ENST00000262367.9:c.919T>C
ENSP00000262367.5:p.Leu307=
ENST00000382070.7:c.919T>C
ENSP00000371502.3:p.Leu307=
NM_001079846.1:c.919T>C
NP_001073315.1:p.Leu307=
NM_004380.2:c.919T>C
NP_004371.2:p.Leu307=
XM_005255124.3:c.919T>C
XP_005255181.1:p.Leu307=
XM_005255125.3:c.919T>C
XP_005255182.1:p.Leu307=
XM_006720848.2:c.919T>C
XP_006720911.1:p.Leu307=
XM_011522380.1:c.865T>C
XP_011520682.1:p.Leu289=
XM_011522381.1:c.166T>C
XP_011520683.1:p.Leu56=
XM_011522382.1:c.919T>C
XP_011520684.1:p.Leu307=
XM_005255124.4:c.919T>C
XP_005255181.1:p.Leu307=
XM_005255125.4:c.919T>C
XP_005255182.1:p.Leu307=
XM_006720848.3:c.919T>C
XP_006720911.1:p.Leu307=
XM_011522381.2:c.166T>C
XP_011520683.1:p.Leu56=
XM_011522382.3:c.919T>C
XP_011520684.1:p.Leu307=
XM_017022944.1:c.919T>C
XP_016878433.1:p.Leu307=
NM_004380.3:c.919T>C
MANE Select
NP_004371.2:p.Leu307=