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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_000018.10:g.2698022T>C , CM000680.2:g.2698022T>C
GRCh38
NC_000018.9:g.2698020T>C , CM000680.1:g.2698020T>C
GRCh37
NC_000018.8:g.2688020T>C
NCBI36
NG_031972.1:g.47135T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000684915.1:n.1480T>C
ENST00000688342.1:c.1323T>C
ENSP00000508422.1:p.Asp441=
ENST00000693213.1:n.601T>C
ENST00000320876.11:c.1323T>C
MANE Select
ENSP00000326603.7:p.Asp441=
ENST00000320876.10:c.1323T>C
ENSP00000326603.6:p.Asp441=
NM_015295.2:c.1323T>C
NP_056110.2:p.Asp441=
XM_011525642.1:c.1323T>C
XP_011523944.1:p.Asp441=
XM_011525643.1:c.1323T>C
XP_011523945.1:p.Asp441=
XM_011525644.1:c.939T>C
XP_011523946.1:p.Asp313=
XM_011525645.1:c.759T>C
XP_011523947.1:p.Asp253=
XM_011525646.1:c.1323T>C
XP_011523948.1:p.Asp441=
XM_011525647.1:c.1323T>C
XP_011523949.1:p.Asp441=
XR_430039.1:n.1512T>C
XR_935054.1:n.1512T>C
XR_935055.1:n.1512T>C
XM_011525643.2:c.1323T>C
XP_011523945.1:p.Asp441=
XM_017025684.1:c.759T>C
XP_016881173.1:p.Asp253=
XR_001753172.1:n.1512T>C
XR_001753173.1:n.1512T>C
XR_001753174.1:n.1512T>C
XR_001753175.1:n.1512T>C
XR_001753176.1:n.1512T>C
XR_001753177.1:n.1512T>C
XR_001753178.1:n.1512T>C
XR_001753179.1:n.1512T>C
XR_935055.2:n.1512T>C
NM_015295.3:c.1323T>C
MANE Select
NP_056110.2:p.Asp441=