×
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.25557269T= , CM000663.2:g.25557269T=
GRCh38
NC_000001.10:g.25883760T= , CM000663.1:g.25883760T=
GRCh37
NC_000001.9:g.25756347T=
NCBI36
NG_008932.1:g.18685T= , LRG_276:g.18685T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374338.5:c.459+2T=
MANE Select
ENSP00000363458.4:n.459+2T=
ENST00000374338.4:c.459+2T=
ENSP00000363458.4:n.459+2T=
ENST00000462394.1:n.209T=
ENST00000488127.1:n.929+2T=
NM_015627.2:c.459+2T= , LRG_276t1:c.459+2T=
NP_056442.2:n.459+2T=
XM_006710559.2:c.459+2T=
XP_006710622.1:n.459+2T=
XM_006710560.2:c.459+2T=
XP_006710623.1:n.459+2T=
XM_006710561.2:c.459+2T=
XP_006710624.1:n.459+2T=
XM_011541209.1:c.459+2T=
XP_011539511.1:n.459+2T=
XM_011541210.1:c.459+2T=
XP_011539512.1:n.459+2T=
XM_011541211.1:c.459+2T=
XP_011539513.1:n.459+2T=
XM_011541212.1:c.459+2T=
XP_011539514.1:n.459+2T=
XR_426598.2:n.578+2T=
XR_946602.1:n.578+2T=
XR_946603.1:n.578+2T=
XM_006710559.4:c.459+2T=
XP_006710622.1:n.459+2T=
XM_006710560.4:c.459+2T=
XP_006710623.1:n.459+2T=
XM_006710561.4:c.459+2T=
XP_006710624.1:n.459+2T=
XM_011541209.3:c.459+2T=
XP_011539511.1:n.459+2T=
XM_011541210.3:c.459+2T=
XP_011539512.1:n.459+2T=
XM_011541211.3:c.459+2T=
XP_011539513.1:n.459+2T=
XM_011541212.3:c.459+2T=
XP_011539514.1:n.459+2T=
XM_017000994.2:c.378+2T=
XP_016856483.1:n.378+2T=
XM_017000995.2:c.459+2T=
XP_016856484.1:n.459+2T=
XM_024446315.1:c.324+2T=
XP_024302083.1:n.324+2T=
XR_001737112.2:n.529+2T=
XR_001737113.2:n.529+2T=
XR_002956258.1:n.529+2T=
XR_426598.4:n.529+2T=
XR_946602.3:n.529+2T=
XR_946603.3:n.529+2T=
NM_015627.3:c.459+2T=
MANE Select
NP_056442.2:n.459+2T=