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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_000004.12:g.102501376C>A , CM000666.2:g.102501376C>A
GRCh38
NC_000004.11:g.103422533C>A , CM000666.1:g.103422533C>A
GRCh37
NC_000004.10:g.103641565C>A
NCBI36
NG_050628.1:g.5048C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000507079.6:c.-466C>A
ENSP00000426147.2:n.-466C>A
ENST00000226574.9:c.-420C>A
MANE Select
ENSP00000226574.4:n.-420C>A
ENST00000226574.8:c.-420C>A
ENSP00000226574.4:n.-420C>A
ENST00000394820.8:c.-420C>A
ENSP00000378297.4:n.-420C>A
NM_001165412.1:c.-420C>A
NP_001158884.1:n.-420C>A
NM_003998.3:c.-420C>A
NP_003989.2:n.-420C>A
XM_011532467.1:c.516G>T
XP_011530769.1:p.Pro172=
NR_136202.1:n.48+1063G>T
XM_024454067.1:c.-466C>A
XP_024309835.1:n.-466C>A
XM_024454069.1:c.-466C>A
XP_024309837.1:n.-466C>A
NM_003998.4:c.-420C>A
MANE Select
NP_003989.2:n.-420C>A
NM_001165412.2:c.-420C>A
NP_001158884.1:n.-420C>A
NM_001382626.1:c.-490C>A
NP_001369555.1:n.-490C>A
NM_001382627.1:c.-490C>A
NP_001369556.1:n.-490C>A
NM_001382628.1:c.-413C>A
NP_001369557.1:n.-413C>A