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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_000013.11:g.100089083G>C , CM000675.2:g.100089083G>C
GRCh38
NC_000013.10:g.100741337G>C , CM000675.1:g.100741337G>C
GRCh37
NC_000013.9:g.99539338G>C
NCBI36
NG_008768.1:g.5001G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376279.7:c.-38G>C
ENSP00000365456.3:n.-38G>C
ENST00000376285.5:c.-38G>C
ENSP00000365462.1:n.-38G>C
ENST00000376286.8:c.-38G>C
ENSP00000365463.4:n.-38G>C
NM_000282.3:c.-38G>C
NP_000273.2:n.-38G>C
NM_001127692.2:c.-38G>C
NP_001121164.1:n.-38G>C
NM_001178004.1:c.-38G>C
NP_001171475.1:n.-38G>C
XM_005254059.2:c.-38G>C
XP_005254116.1:n.-38G>C
XM_011521093.1:c.-38G>C
XP_011519395.1:n.-38G>C
XR_931615.1:n.64G>C
XR_931616.1:n.64G>C
NM_001352605.1:c.-38G>C
NP_001339534.1:n.-38G>C
NM_001352606.1:c.-38G>C
NP_001339535.1:n.-38G>C
NM_001352607.1:c.-38G>C
NP_001339536.1:n.-38G>C
NM_001352608.1:c.-38G>C
NP_001339537.1:n.-38G>C
NM_001352609.1:c.-38G>C
NP_001339538.1:n.-38G>C
NM_001352610.1:c.-904G>C
NP_001339539.1:n.-904G>C
NM_001352611.1:c.-904G>C
NP_001339540.1:n.-904G>C
NM_001352612.1:c.-904G>C
NP_001339541.1:n.-904G>C
NR_148027.1:n.69G>C
NR_148028.1:n.69G>C
NR_148029.1:n.69G>C
NR_148030.1:n.69G>C
NR_148031.1:n.69G>C
XM_017020605.1:c.-38G>C
XP_016876094.1:n.-38G>C
XM_017020611.1:c.-38G>C
XP_016876100.1:n.-38G>C
XM_017020612.1:c.-38G>C
XP_016876101.1:n.-38G>C
XM_017020613.1:c.-38G>C
XP_016876102.1:n.-38G>C
XM_017020615.1:c.-38G>C
XP_016876104.1:n.-38G>C
XM_017020616.1:c.-38G>C
XP_016876105.1:n.-38G>C
XR_001749567.1:n.64G>C
XR_001749568.1:n.64G>C
XR_001749569.1:n.64G>C
XR_001749576.1:n.64G>C
XR_001749577.1:n.64G>C