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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_000006.12:g.20546367G>T , CM000668.2:g.20546367G>T
GRCh38
NC_000006.11:g.20546598G>T , CM000668.1:g.20546598G>T
GRCh37
NC_000006.10:g.20654577G>T
NCBI36
NG_021195.1:g.16911G>T
NG_021195.2:g.16911G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000274695.8:c.17G>T
MANE Select
ENSP00000274695.4:p.Cys6Phe
ENST00000378610.1:c.17G>T
ENSP00000367873.1:p.Cys6Phe
ENST00000613575.4:c.17G>T
ENSP00000481755.1:p.Cys6Phe
NM_017774.3:c.17G>T
MANE Select
NP_060244.2:p.Cys6Phe
XM_006715128.2:c.17G>T
XP_006715191.1:p.Cys6Phe
XM_011514718.1:c.17G>T
XP_011513020.1:p.Cys6Phe
XM_011514719.1:c.17G>T
XP_011513021.1:p.Cys6Phe
XR_926265.1:n.184G>T
XR_926266.1:n.297G>T
XR_926267.1:n.184G>T
XM_011514719.2:c.17G>T
XP_011513021.1:p.Cys6Phe
XM_017010986.1:c.17G>T
XP_016866475.1:p.Cys6Phe
XM_017010987.1:c.-738G>T
XP_016866476.1:n.-738G>T
XM_024446481.1:c.17G>T
XP_024302249.1:p.Cys6Phe
XR_001743495.2:n.189G>T
XR_001743496.2:n.584G>T
XR_001743500.1:n.184G>T
XR_001743501.1:n.184G>T
XR_926265.2:n.184G>T
XR_926266.2:n.297G>T
XR_926267.2:n.184G>T