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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_000011.10:g.74457572G= , CM000673.2:g.74457572G=
GRCh38
NC_000011.9:g.74168617G= , CM000673.1:g.74168617G=
GRCh37
NC_000011.8:g.73846265G=
NCBI36
NG_011833.1:g.14984C= , LRG_439:g.14984C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000310128.9:c.-9C=
MANE Select
ENSP00000310557.4:n.-9C=
ENST00000310128.8:c.-9C=
ENSP00000310557.4:n.-9C=
ENST00000525550.1:c.-9C=
ENSP00000433633.1:n.-9C=
ENST00000526855.1:c.-9C=
ENSP00000435539.1:n.-9C=
ENST00000529425.5:c.-9C=
ENSP00000434890.1:n.-9C=
ENST00000531854.5:c.-9C=
ENSP00000433697.1:n.-9C=
ENST00000532569.5:c.-9C=
ENSP00000431739.1:n.-9C=
NM_005472.4:c.-9C= , LRG_439t1:c.-9C=
NP_005463.1:n.-9C=
XM_011544713.1:c.124C=
XP_011543015.1:p.Pro42=
XM_011544713.2:c.124C=
XP_011543015.1:p.Pro42=
XM_017017047.1:c.-9C=
XP_016872536.1:n.-9C=
XM_017017048.1:c.-9C=
XP_016872537.1:n.-9C=
XM_017017049.1:c.-9C=
XP_016872538.1:n.-9C=
XM_017017051.2:c.-9C=
XP_016872540.1:n.-9C=
XM_017017052.1:c.-9C=
XP_016872541.1:n.-9C=
NM_005472.5:c.-9C=
MANE Select
NP_005463.1:n.-9C=