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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.91757276C>T , CM000671.2:g.91757276C>T
GRCh38
NC_000009.11:g.94519558C>T , CM000671.1:g.94519558C>T
GRCh37
NC_000009.10:g.93559379C>T
NCBI36
NG_008089.1:g.197887G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375708.4:c.459G>A
MANE Select
ENSP00000364860.3:p.Arg153=
ENST00000375708.3:c.459G>A
ENSP00000364860.3:p.Arg153=
ENST00000375715.5:c.39G>A
ENSP00000364867.1:p.Arg13=
ENST00000548585.2:n.172+153G>A
ENST00000550066.5:n.927G>A
NM_004560.3:c.459G>A
NP_004551.2:p.Arg153=
XM_005252008.3:c.39G>A
XP_005252065.1:p.Arg13=
XM_006717121.2:c.39G>A
XP_006717184.1:p.Arg13=
XM_011518721.1:c.39G>A
XP_011517023.1:p.Arg13=
NM_001318204.1:c.459G>A
NP_001305133.1:p.Arg153=
XM_005252008.4:c.39G>A
XP_005252065.1:p.Arg13=
XM_006717121.3:c.39G>A
XP_006717184.1:p.Arg13=
XM_017014762.1:c.450G>A
XP_016870251.1:p.Arg150=
XM_017014763.1:c.39G>A
XP_016870252.1:p.Arg13=
XR_001746315.1:n.702G>A
NM_004560.4:c.459G>A
MANE Select
NP_004551.2:p.Arg153=
NM_001318204.2:c.459G>A
NP_001305133.1:p.Arg153=