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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.180603174G>C , CM000667.2:g.180603174G>C
GRCh38
NC_000005.9:g.180030174G>C , CM000667.1:g.180030174G>C
GRCh37
NC_000005.8:g.179962780G>C
NCBI36
NG_011536.1:g.51451C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261937.11:c.*18C>G
MANE Select
ENSP00000261937.6:n.*18C>G
ENST00000261937.10:c.*18C>G
ENSP00000261937.6:n.*18C>G
ENST00000502603.5:n.810C>G
NM_182925.4:c.*18C>G
NP_891555.2:n.*18C>G
XM_011534477.1:c.*18C>G
XP_011532779.1:n.*18C>G
XM_011534478.1:c.*18C>G
XP_011532780.1:n.*18C>G
XM_011534482.1:c.*18C>G
XP_011532784.1:n.*18C>G
XM_011534483.1:c.*18C>G
XP_011532785.1:n.*18C>G
XM_011534484.1:c.*18C>G
XP_011532786.1:n.*18C>G
XR_941095.1:n.4396C>G
XM_011534478.3:c.*18C>G
XP_011532780.1:n.*18C>G
XM_011534484.2:c.*18C>G
XP_011532786.1:n.*18C>G
XM_017009263.1:c.*256C>G
XP_016864752.1:n.*256C>G
XM_017009268.1:c.*18C>G
XP_016864757.1:n.*18C>G
XR_001742050.2:n.4600C>G
NM_182925.5:c.*18C>G
MANE Select
NP_891555.2:n.*18C>G