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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.91757309C>T , CM000671.2:g.91757309C>T
GRCh38
NC_000009.11:g.94519591C>T , CM000671.1:g.94519591C>T
GRCh37
NC_000009.10:g.93559412C>T
NCBI36
NG_008089.1:g.197854G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375708.4:c.426G>A
MANE Select
ENSP00000364860.3:p.Lys142=
ENST00000375708.3:c.426G>A
ENSP00000364860.3:p.Lys142=
ENST00000375715.5:c.6G>A
ENSP00000364867.1:p.Lys2=
ENST00000548585.2:n.172+120G>A
ENST00000550066.5:n.894G>A
NM_004560.3:c.426G>A
NP_004551.2:p.Lys142=
XM_005252008.3:c.6G>A
XP_005252065.1:p.Lys2=
XM_006717121.2:c.6G>A
XP_006717184.1:p.Lys2=
XM_011518721.1:c.6G>A
XP_011517023.1:p.Lys2=
NM_001318204.1:c.426G>A
NP_001305133.1:p.Lys142=
XM_005252008.4:c.6G>A
XP_005252065.1:p.Lys2=
XM_006717121.3:c.6G>A
XP_006717184.1:p.Lys2=
XM_017014762.1:c.417G>A
XP_016870251.1:p.Lys139=
XM_017014763.1:c.6G>A
XP_016870252.1:p.Lys2=
XR_001746315.1:n.669G>A
NM_004560.4:c.426G>A
MANE Select
NP_004551.2:p.Lys142=
NM_001318204.2:c.426G>A
NP_001305133.1:p.Lys142=