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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_000005.10:g.180603175G>T , CM000667.2:g.180603175G>T
GRCh38
NC_000005.9:g.180030175G>T , CM000667.1:g.180030175G>T
GRCh37
NC_000005.8:g.179962781G>T
NCBI36
NG_011536.1:g.51450C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261937.11:c.*17C>A
MANE Select
ENSP00000261937.6:n.*17C>A
ENST00000261937.10:c.*17C>A
ENSP00000261937.6:n.*17C>A
ENST00000502603.5:n.809C>A
NM_182925.4:c.*17C>A
NP_891555.2:n.*17C>A
XM_011534477.1:c.*17C>A
XP_011532779.1:n.*17C>A
XM_011534478.1:c.*17C>A
XP_011532780.1:n.*17C>A
XM_011534482.1:c.*17C>A
XP_011532784.1:n.*17C>A
XM_011534483.1:c.*17C>A
XP_011532785.1:n.*17C>A
XM_011534484.1:c.*17C>A
XP_011532786.1:n.*17C>A
XR_941095.1:n.4395C>A
XM_011534478.3:c.*17C>A
XP_011532780.1:n.*17C>A
XM_011534484.2:c.*17C>A
XP_011532786.1:n.*17C>A
XM_017009263.1:c.*255C>A
XP_016864752.1:n.*255C>A
XM_017009268.1:c.*17C>A
XP_016864757.1:n.*17C>A
XR_001742050.2:n.4599C>A
NM_182925.5:c.*17C>A
MANE Select
NP_891555.2:n.*17C>A