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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.117173469C>A , CM000670.2:g.117173469C>A
GRCh38
NC_000008.10:g.118185708C>A , CM000670.1:g.118185708C>A
GRCh37
NC_000008.9:g.118254889C>A
NCBI36
NG_016991.1:g.228197C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000456015.7:c.*788C>A
MANE Select
ENSP00000415011.2:n.*788C>A
ENST00000427715.2:c.*788C>A
ENSP00000407505.2:n.*788C>A
ENST00000456015.6:c.1898C>A
ENSP00000415011.2:n.1898C>A
ENST00000519688.5:c.*788C>A
ENSP00000431069.1:n.*788C>A
NM_001172811.1:c.*788C>A
NP_001166282.1:n.*788C>A
NM_001172813.1:c.*788C>A
NP_001166284.1:n.*788C>A
NM_001172814.1:c.*788C>A
NP_001166285.1:n.*788C>A
NM_001172815.1:c.*788C>A
NP_001166286.1:n.*788C>A
NM_173851.2:c.*788C>A
NP_776250.2:n.*788C>A
XM_011516881.1:c.*788C>A
XP_011515183.1:n.*788C>A
XM_011516882.1:c.*788C>A
XP_011515184.1:n.*788C>A
XR_928566.1:n.939G>T
XR_928567.1:n.532G>T
XR_928568.1:n.737G>T
XR_928569.1:n.780G>T
XR_928570.1:n.780G>T
NM_001172815.2:c.*788C>A
NP_001166286.1:n.*788C>A
XM_024447083.1:c.*788C>A
XP_024302851.1:n.*788C>A
XR_001746038.1:n.724G>T
XR_928566.2:n.882G>T
XR_928567.2:n.495G>T
XR_928568.3:n.735G>T
XR_928569.2:n.733G>T
XR_928570.2:n.733G>T
NM_001172811.2:c.*788C>A
NP_001166282.1:n.*788C>A
NM_001172813.2:c.*788C>A
NP_001166284.1:n.*788C>A
NM_001172814.2:c.*788C>A
NP_001166285.1:n.*788C>A
NM_173851.3:c.*788C>A
MANE Select
NP_776250.2:n.*788C>A
NM_001172815.3:c.*788C>A
NP_001166286.1:n.*788C>A