×
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_000006.12:g.107245578T= , CM000668.2:g.107245578T=
GRCh38
NC_000006.11:g.107566782T= , CM000668.1:g.107566782T=
GRCh37
NC_000006.10:g.107673475T=
NCBI36
NG_013033.1:g.218998A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000369037.9:c.672A=
MANE Select
ENSP00000358033.4:p.Gln224=
ENST00000369037.8:c.672A=
ENSP00000358033.4:p.Gln224=
NM_020381.3:c.672A=
NP_065114.3:p.Gln224=
XM_011535956.1:c.672A=
XP_011534258.1:p.Gln224=
XM_011535957.1:c.672A=
XP_011534259.1:p.Gln224=
XM_011535958.1:c.537A=
XP_011534260.1:p.Gln179=
XM_011535959.1:c.672A=
XP_011534261.1:p.Gln224=
XM_011535960.1:c.264A=
XP_011534262.1:p.Gln88=
XM_011535961.1:c.672A=
XP_011534263.1:p.Gln224=
XM_011535962.1:c.264A=
XP_011534264.1:p.Gln88=
XM_011535956.3:c.672A=
XP_011534258.1:p.Gln224=
XM_011535957.3:c.672A=
XP_011534259.1:p.Gln224=
XM_011535958.3:c.537A=
XP_011534260.1:p.Gln179=
XM_011535959.3:c.672A=
XP_011534261.1:p.Gln224=
XM_011535960.3:c.264A=
XP_011534262.1:p.Gln88=
XM_011535961.3:c.672A=
XP_011534263.1:p.Gln224=
XM_011535962.2:c.264A=
XP_011534264.1:p.Gln88=
XM_017011082.2:c.672A=
XP_016866571.1:p.Gln224=
NM_020381.4:c.672A=
MANE Select
NP_065114.3:p.Gln224=