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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_000008.11:g.117173428C>A , CM000670.2:g.117173428C>A
GRCh38
NC_000008.10:g.118185667C>A , CM000670.1:g.118185667C>A
GRCh37
NC_000008.9:g.118254848C>A
NCBI36
NG_016991.1:g.228156C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000456015.7:c.*747C>A
MANE Select
ENSP00000415011.2:n.*747C>A
ENST00000427715.2:c.*747C>A
ENSP00000407505.2:n.*747C>A
ENST00000456015.6:c.1857C>A
ENSP00000415011.2:n.1857C>A
ENST00000519688.5:c.*747C>A
ENSP00000431069.1:n.*747C>A
NM_001172811.1:c.*747C>A
NP_001166282.1:n.*747C>A
NM_001172813.1:c.*747C>A
NP_001166284.1:n.*747C>A
NM_001172814.1:c.*747C>A
NP_001166285.1:n.*747C>A
NM_001172815.1:c.*747C>A
NP_001166286.1:n.*747C>A
NM_173851.2:c.*747C>A
NP_776250.2:n.*747C>A
XM_011516881.1:c.*747C>A
XP_011515183.1:n.*747C>A
XM_011516882.1:c.*747C>A
XP_011515184.1:n.*747C>A
XR_928569.1:n.821G>T
XR_928570.1:n.821G>T
NM_001172815.2:c.*747C>A
NP_001166286.1:n.*747C>A
XM_024447083.1:c.*747C>A
XP_024302851.1:n.*747C>A
XR_928569.2:n.774G>T
XR_928570.2:n.774G>T
NM_001172811.2:c.*747C>A
NP_001166282.1:n.*747C>A
NM_001172813.2:c.*747C>A
NP_001166284.1:n.*747C>A
NM_001172814.2:c.*747C>A
NP_001166285.1:n.*747C>A
NM_173851.3:c.*747C>A
MANE Select
NP_776250.2:n.*747C>A
NM_001172815.3:c.*747C>A
NP_001166286.1:n.*747C>A