×
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_000009.12:g.34517359G= , CM000671.2:g.34517359G=
GRCh38
NC_000009.11:g.34517357G= , CM000671.1:g.34517357G=
GRCh37
NC_000009.10:g.34507357G=
NCBI36
NG_008127.1:g.63547G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242317.9:c.1893G=
MANE Select
ENSP00000242317.4:p.Arg631=
ENST00000242317.8:c.1893G=
ENSP00000242317.4:p.Arg631=
ENST00000442556.1:c.329+2620G=
ENST00000470169.5:c.681G=
ENST00000485580.1:n.469G=
ENST00000614641.4:c.1905G=
ENSP00000480538.1:p.Arg635=
NM_001281428.1:c.1905G=
NP_001268357.1:p.Arg635=
NM_012144.3:c.1893G=
NP_036276.1:p.Arg631=
XM_006716758.2:c.1362G=
XP_006716821.1:p.Arg454=
XM_011517848.1:c.1647G=
XP_011516150.1:p.Arg549=
XM_006716758.3:c.1362G=
XP_006716821.1:p.Arg454=
XM_011517848.2:c.1647G=
XP_011516150.1:p.Arg549=
XM_017014625.2:c.1635G=
XP_016870114.1:p.Arg545=
XR_002956774.1:n.1996G=
NM_012144.4:c.1893G=
MANE Select
NP_036276.1:p.Arg631=
NM_001281428.2:c.1905G=
NP_001268357.1:p.Arg635=