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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.91723794G>C , CM000671.2:g.91723794G>C
GRCh38
NC_000009.11:g.94486076G>C , CM000671.1:g.94486076G>C
GRCh37
NC_000009.10:g.93525897G>C
NCBI36
NG_008089.1:g.231369C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375708.4:c.2700C>G
MANE Select
ENSP00000364860.3:p.Ala900=
ENST00000375708.3:c.2700C>G
ENSP00000364860.3:p.Ala900=
ENST00000375715.5:c.1920+360C>G
ENSP00000364867.1:n.1920+360C>G
ENST00000550066.5:n.3168C>G
NM_004560.3:c.2700C>G
NP_004551.2:p.Ala900=
XM_005252008.3:c.2280C>G
XP_005252065.1:p.Ala760=
XM_005252009.3:c.1497C>G
XP_005252066.1:p.Ala499=
XM_006717121.2:c.2280C>G
XP_006717184.1:p.Ala760=
XM_011518721.1:c.2280C>G
XP_011517023.1:p.Ala760=
XM_005252008.4:c.2280C>G
XP_005252065.1:p.Ala760=
XM_006717121.3:c.2280C>G
XP_006717184.1:p.Ala760=
XM_017014762.1:c.2691C>G
XP_016870251.1:p.Ala897=
XM_017014763.1:c.2280C>G
XP_016870252.1:p.Ala760=
NM_004560.4:c.2700C>G
MANE Select
NP_004551.2:p.Ala900=