×
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_000001.11:g.111786959T>C , CM000663.2:g.111786959T>C
GRCh38
NC_000001.10:g.112329581T>C , CM000663.1:g.112329581T>C
GRCh37
NC_000001.9:g.112131104T>C
NCBI36
NG_032011.2:g.207197A>G , LRG_445:g.207197A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000302127.5:c.1254A>G
MANE Select
ENSP00000306923.4:p.Lys418=
ENST00000302127.4:c.1254A>G
ENSP00000306923.3:p.Lys418=
ENST00000315987.6:c.1254A>G
ENSP00000319591.2:p.Lys418=
ENST00000369697.5:c.1254A>G
ENSP00000358711.1:p.Lys418=
NM_004980.4:c.1254A>G , LRG_445t1:c.1254A>G
NP_004971.2:p.Lys418=
NM_172198.2:c.1254A>G
NP_751948.1:p.Lys418=
XM_005270851.3:c.1254A>G
XP_005270908.1:p.Lys418=
XM_006710629.2:c.1254A>G
XP_006710692.1:p.Lys418=
XM_006710630.2:c.1254A>G
XP_006710693.1:p.Lys418=
XM_006710631.2:c.1254A>G
XP_006710694.1:p.Lys418=
XM_005270851.4:c.1254A>G
XP_005270908.1:p.Lys418=
XM_006710629.4:c.1254A>G
XP_006710692.1:p.Lys418=
XM_006710630.3:c.1254A>G
XP_006710693.1:p.Lys418=
XM_006710631.3:c.1254A>G
XP_006710694.1:p.Lys418=
XM_017001244.2:c.1254A>G
XP_016856733.1:p.Lys418=
NM_001378969.1:c.1254A>G
MANE Select
NP_001365898.1:p.Lys418=
NM_001378970.1:c.1254A>G
NP_001365899.1:p.Lys418=
NM_004980.5:c.1254A>G
NP_004971.2:p.Lys418=
NM_172198.3:c.1254A>G
NP_751948.1:p.Lys418=