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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_000012.12:g.13562188T>C , CM000674.2:g.13562188T>C
GRCh38
NC_000012.11:g.13715122T>C , CM000674.1:g.13715122T>C
GRCh37
NC_000012.10:g.13606389T>C
NCBI36
NG_031854.1:g.422901A>G
NG_031854.2:g.424825A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609686.4:c.*595A>G
MANE Select
ENSP00000477455.1:n.*595A>G
ENST00000636207.1:n.54+50A>G
ENST00000637214.1:c.69+46415A>G
ENSP00000489997.1:n.69+46415A>G
ENST00000609686.3:c.*595A>G
ENSP00000477455.1:n.*595A>G
NM_000834.3:c.*595A>G
NP_000825.2:n.*595A>G
XM_005253351.2:c.*595A>G
XP_005253408.1:n.*595A>G
XM_011520628.1:c.*595A>G
XP_011518930.1:n.*595A>G
XM_011520629.1:c.*595A>G
XP_011518931.1:n.*595A>G
XM_011520630.1:c.*595A>G
XP_011518932.1:n.*595A>G
NM_000834.4:c.*595A>G
NP_000825.2:n.*595A>G
XM_005253351.3:c.*595A>G
XP_005253408.1:n.*595A>G
XM_011520628.2:c.*595A>G
XP_011518930.1:n.*595A>G
XM_011520629.2:c.*595A>G
XP_011518931.1:n.*595A>G
XM_017019219.2:c.*595A>G
XP_016874708.1:n.*595A>G
NM_000834.5:c.*595A>G
MANE Select
NP_000825.2:n.*595A>G