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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_000009.12:g.91757414C>G , CM000671.2:g.91757414C>G
GRCh38
NC_000009.11:g.94519696C>G , CM000671.1:g.94519696C>G
GRCh37
NC_000009.10:g.93559517C>G
NCBI36
NG_008089.1:g.197749G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375708.4:c.321G>C
MANE Select
ENSP00000364860.3:p.Arg107=
ENST00000375708.3:c.321G>C
ENSP00000364860.3:p.Arg107=
ENST00000375715.5:c.-100G>C
ENSP00000364867.1:n.-100G>C
ENST00000495386.5:n.584G>C
ENST00000548585.2:n.172+15G>C
ENST00000550066.5:n.789G>C
NM_004560.3:c.321G>C
NP_004551.2:p.Arg107=
XM_005252008.3:c.-100G>C
XP_005252065.1:n.-100G>C
XM_006717121.2:c.-100G>C
XP_006717184.1:n.-100G>C
XM_011518721.1:c.-100G>C
XP_011517023.1:n.-100G>C
NM_001318204.1:c.321G>C
NP_001305133.1:p.Arg107=
XM_005252008.4:c.-100G>C
XP_005252065.1:n.-100G>C
XM_006717121.3:c.-100G>C
XP_006717184.1:n.-100G>C
XM_017014762.1:c.312G>C
XP_016870251.1:p.Arg104=
XM_017014763.1:c.-100G>C
XP_016870252.1:n.-100G>C
XR_001746315.1:n.564G>C
NM_004560.4:c.321G>C
MANE Select
NP_004551.2:p.Arg107=
NM_001318204.2:c.321G>C
NP_001305133.1:p.Arg107=