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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_000008.11:g.143728566G>A , CM000670.2:g.143728566G>A
GRCh38
NC_000008.10:g.144810736G>A , CM000670.1:g.144810736G>A
GRCh37
NC_000008.9:g.144882724G>A
NCBI36
NG_016652.1:g.10179C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000388913.4:c.895C>T
MANE Select
ENSP00000373565.3:p.Leu299=
ENST00000650760.1:c.1498C>T
ENSP00000499217.1:p.Leu500=
ENST00000388913.3:c.895C>T
ENSP00000373565.3:p.Leu299=
ENST00000395103.2:c.75C>T
NM_198488.3:c.895C>T
NP_940890.3:p.Leu299=
XM_005250887.2:c.952C>T
XP_005250944.1:p.Leu318=
XM_005250888.2:c.913C>T
XP_005250945.1:p.Leu305=
XM_005250889.2:c.895C>T
XP_005250946.1:p.Leu299=
XM_011516980.1:c.1216C>T
XP_011515282.1:p.Leu406=
XM_011516981.1:c.1063C>T
XP_011515283.1:p.Leu355=
XM_005250887.3:c.952C>T
XP_005250944.1:p.Leu318=
XM_005250888.3:c.913C>T
XP_005250945.1:p.Leu305=
XM_005250889.3:c.895C>T
XP_005250946.1:p.Leu299=
XM_011516980.2:c.1498C>T
XP_011515282.2:p.Leu500=
XM_011516981.2:c.1063C>T
XP_011515283.1:p.Leu355=
XM_024447131.1:c.895C>T
XP_024302899.1:p.Leu299=
NM_198488.4:c.895C>T
NP_940890.3:p.Leu299=
NM_198488.5:c.895C>T
MANE Select
NP_940890.4:p.Leu299=