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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_000012.12:g.32645747C= , CM000674.2:g.32645747C=
GRCh38
NC_000012.11:g.32798681C= , CM000674.1:g.32798681C=
GRCh37
NC_000012.10:g.32689948C=
NCBI36
NG_008626.2:g.251219C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000531134.6:c.*5214C=
ENSP00000431323.1:n.*5214C=
ENST00000534526.7:c.*5214C=
MANE Select
ENSP00000449273.1:n.*5214C=
ENST00000427716.6:c.*5214C=
ENSP00000394487.2:n.*5214C=
NM_001304480.1:c.*5214C=
NP_001291409.1:n.*5214C=
NM_001304481.1:c.*5214C=
NP_001291410.1:n.*5214C=
NM_001304484.1:c.*5214C=
NP_001291413.1:n.*5214C=
NM_139241.3:c.*5214C=
NP_640334.2:n.*5214C=
XM_005253304.3:c.*5214C=
XP_005253361.1:n.*5214C=
XM_005253307.2:c.*5214C=
XP_005253364.1:n.*5214C=
XM_005253308.3:c.*5214C=
XP_005253365.1:n.*5214C=
XM_005253309.1:c.*5214C=
XP_005253366.1:n.*5214C=
XM_005253310.3:c.*5214C=
XP_005253367.1:n.*5214C=
XM_011520554.1:c.*5214C=
XP_011518856.1:n.*5214C=
XM_011520555.1:c.*5214C=
XP_011518857.1:n.*5214C=
XM_011520556.1:c.*5214C=
XP_011518858.1:n.*5214C=
XM_011520557.1:c.*5214C=
XP_011518859.1:n.*5214C=
XM_011520558.1:c.*5214C=
XP_011518860.1:n.*5214C=
XM_011520559.1:c.*5214C=
XP_011518861.1:n.*5214C=
NM_001330373.1:c.*5214C=
NP_001317302.1:n.*5214C=
NM_001330374.1:c.*5214C=
NP_001317303.1:n.*5214C=
XM_005253304.4:c.*5214C=
XP_005253361.1:n.*5214C=
XM_005253308.5:c.*5214C=
XP_005253365.1:n.*5214C=
XM_005253310.4:c.*5214C=
XP_005253367.1:n.*5214C=
XM_011520558.2:c.*5214C=
XP_011518860.1:n.*5214C=
XM_011520559.3:c.*5214C=
XP_011518861.1:n.*5214C=
XM_017018803.1:c.*1122C=
XP_016874292.1:n.*1122C=
XM_017018805.1:c.*5214C=
XP_016874294.1:n.*5214C=
XM_024448837.1:c.*5214C=
XP_024304605.1:n.*5214C=
XM_024448838.1:c.*5214C=
XP_024304606.1:n.*5214C=
XM_024448839.1:c.*5214C=
XP_024304607.1:n.*5214C=
XM_024448840.1:c.*5214C=
XP_024304608.1:n.*5214C=
NM_001370297.1:c.*5214C=
NP_001357226.1:n.*5214C=
NM_001370298.1:c.*5214C=
NP_001357227.1:n.*5214C=
NM_001304484.2:c.*5214C=
NP_001291413.1:n.*5214C=
NM_001330373.2:c.*5214C=
NP_001317302.1:n.*5214C=
NM_001330374.2:c.*5214C=
NP_001317303.1:n.*5214C=
NM_001370298.3:c.*5214C=
MANE Select
NP_001357227.2:n.*5214C=
NM_001384126.1:c.*1122C=
NP_001371055.1:n.*1122C=
NM_001384127.1:c.*1122C=
NP_001371056.1:n.*1122C=
NM_001384128.1:c.*1122C=
NP_001371057.1:n.*1122C=
NM_001384130.1:c.*5214C=
NP_001371059.1:n.*5214C=
NM_001385118.1:c.*5214C=
NP_001372047.1:n.*5214C=