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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_000002.12:g.230168794C>A , CM000664.2:g.230168794C>A
GRCh38
NC_000002.11:g.231033510C>A , CM000664.1:g.231033510C>A
GRCh37
NC_000002.10:g.230741754C>A
NCBI36
NG_008295.1:g.56318G>T , LRG_109:g.56318G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000698099.1:c.*77+253G>T
ENSP00000513563.1:n.*77+253G>T
ENST00000698100.1:c.*77+253G>T
ENSP00000513564.1:n.*77+253G>T
ENST00000258381.11:c.*330G>T
MANE Select
ENSP00000258381.6:n.*330G>T
ENST00000358662.9:c.*330G>T
ENSP00000351488.4:n.*330G>T
ENST00000477068.1:n.1224G>T
XM_006712489.2:c.*330G>T
XP_006712552.1:n.*330G>T
XM_005246525.4:c.*330G>T
XP_005246582.1:n.*330G>T
XM_006712489.4:c.*330G>T
XP_006712552.1:n.*330G>T
XM_011511088.3:c.*330G>T
XP_011509390.1:n.*330G>T
XM_011511091.3:c.*330G>T
XP_011509393.1:n.*330G>T
XM_024452850.1:c.*330G>T
XP_024308618.1:n.*330G>T
NM_004509.4:c.*330G>T
NP_004500.4:n.*330G>T
NM_080424.3:c.*330G>T
NP_536349.3:n.*330G>T
NM_001378442.1:c.*330G>T
NP_001365371.1:n.*330G>T
NM_001378443.1:c.*330G>T
NP_001365372.1:n.*330G>T
NM_001378444.1:c.*330G>T
NP_001365373.1:n.*330G>T
NM_001378445.1:c.*330G>T
NP_001365374.1:n.*330G>T
NM_001378446.1:c.*330G>T
NP_001365375.1:n.*330G>T
NM_004509.5:c.*330G>T
NP_004500.4:n.*330G>T
NM_080424.4:c.*330G>T
MANE Select
NP_536349.3:n.*330G>T