×
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_000001.11:g.155294755G= , CM000663.2:g.155294755G=
GRCh38
NC_000001.10:g.155264546G= , CM000663.1:g.155264546G=
GRCh37
NC_000001.9:g.153531170G=
NCBI36
NG_011677.1:g.11680C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000342741.6:c.695-3C=
MANE Select
ENSP00000339933.4:n.695-3C=
ENST00000342741.4:c.695-3C=
ENSP00000339933.4:n.695-3C=
ENST00000392414.7:c.602-3C=
ENSP00000376214.3:n.602-3C=
NM_000298.5:c.695-3C=
NP_000289.1:n.695-3C=
NM_181871.3:c.602-3C=
NP_870986.1:n.602-3C=
XM_005245266.3:c.854-3C=
XP_005245323.1:n.854-3C=
XM_006711386.2:c.503-3C=
XP_006711449.1:n.503-3C=
XM_011509639.1:c.854-3C=
XP_011507941.1:n.854-3C=
XM_011509640.1:c.503-3C=
XP_011507942.1:n.503-3C=
NM_000298.6:c.695-3C=
MANE Select
NP_000289.1:n.695-3C=
XM_006711386.4:c.503-3C=
XP_006711449.1:n.503-3C=
XM_011509640.3:c.503-3C=
XP_011507942.1:n.503-3C=
XM_017001493.1:c.695-3C=
XP_016856982.1:n.695-3C=
NM_181871.4:c.602-3C=
NP_870986.1:n.602-3C=