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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.28027862T= , CM000677.2:g.28027862T=
GRCh38
NC_000015.9:g.28273008T= , CM000677.1:g.28273008T=
GRCh37
NC_000015.8:g.25946603T=
NCBI36
NG_009846.1:g.76451A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000354638.8:c.515+9A=
MANE Select
ENSP00000346659.3:n.515+9A=
ENST00000353809.9:c.515+9A=
ENSP00000261276.8:n.515+9A=
ENST00000354638.7:c.515+9A=
ENSP00000346659.3:n.515+9A=
ENST00000431101.1:c.515+9A=
ENSP00000415431.1:n.515+9A=
ENST00000445578.5:c.515+9A=
ENSP00000414425.1:n.515+9A=
NM_000275.2:c.515+9A=
NP_000266.2:n.515+9A=
NM_001300984.1:c.515+9A=
NP_001287913.1:n.515+9A=
XM_011521639.1:c.539+9A=
XP_011519941.1:n.539+9A=
XM_011521640.1:c.515+9A=
XP_011519942.1:n.515+9A=
XM_011521641.1:c.539+9A=
XP_011519943.1:n.539+9A=
XM_011521642.1:c.539+9A=
XP_011519944.1:n.539+9A=
XM_011521643.1:c.539+9A=
XP_011519945.1:n.539+9A=
XM_011521644.1:c.539+9A=
XP_011519946.1:n.539+9A=
XM_011521645.1:c.539+9A=
XP_011519947.1:n.539+9A=
XM_011521646.1:c.539+9A=
XP_011519948.1:n.539+9A=
XM_011521647.1:c.539+9A=
XP_011519949.1:n.539+9A=
XR_931843.1:n.1900+9A=
XM_011521640.2:c.515+9A=
XP_011519942.1:n.515+9A=
XM_017022255.1:c.539+9A=
XP_016877744.1:n.539+9A=
XM_017022256.1:c.539+9A=
XP_016877745.1:n.539+9A=
XM_017022257.1:c.539+9A=
XP_016877746.1:n.539+9A=
XM_017022258.1:c.539+9A=
XP_016877747.1:n.539+9A=
XM_017022259.1:c.539+9A=
XP_016877748.1:n.539+9A=
XM_017022260.1:c.539+9A=
XP_016877749.1:n.539+9A=
XM_017022261.1:c.344+9A=
XP_016877750.1:n.344+9A=
XM_017022262.1:c.539+9A=
XP_016877751.1:n.539+9A=
XM_017022263.1:c.539+9A=
XP_016877752.1:n.539+9A=
XM_017022264.1:c.539+9A=
XP_016877753.1:n.539+9A=
XM_017022265.1:c.539+9A=
XP_016877754.1:n.539+9A=
XR_001751294.1:n.628+9A=
NM_000275.3:c.515+9A=
MANE Select
NP_000266.2:n.515+9A=
NM_001300984.2:c.515+9A=
NP_001287913.1:n.515+9A=