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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_000010.11:g.26212523T>C , CM000672.2:g.26212523T>C
GRCh38
NC_000010.10:g.26501452T>C , CM000672.1:g.26501452T>C
GRCh37
NC_000010.9:g.26541458T>C
NCBI36
NG_011635.1:g.283451T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642920.2:c.*560T>C
MANE Select
ENSP00000495965.1:n.*560T>C
ENST00000265944.9:c.*560T>C
ENSP00000265944.4:n.*560T>C
NM_017433.4:c.*560T>C
NP_059129.3:n.*560T>C
XM_011519498.1:c.*560T>C
XP_011517800.1:n.*560T>C
XM_011519499.1:c.*560T>C
XP_011517801.1:n.*560T>C
XM_011519500.1:c.*560T>C
XP_011517802.1:n.*560T>C
XM_011519501.1:c.*560T>C
XP_011517803.1:n.*560T>C
XM_011519504.1:c.*462T>C
XP_011517806.1:n.*462T>C
XM_011519505.1:c.*560T>C
XP_011517807.1:n.*560T>C
XM_011519507.1:c.*560T>C
XP_011517809.1:n.*560T>C
XM_011519512.1:c.*560T>C
XP_011517814.1:n.*560T>C
XM_011519513.1:c.*560T>C
XP_011517815.1:n.*560T>C
XR_930493.1:n.5508T>C
XM_011519498.2:c.*560T>C
XP_011517800.1:n.*560T>C
XM_011519500.2:c.*560T>C
XP_011517802.1:n.*560T>C
XM_011519513.2:c.*560T>C
XP_011517815.1:n.*560T>C
XR_001747111.1:n.4468T>C
NM_017433.5:c.*560T>C
MANE Select
NP_059129.3:n.*560T>C