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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_000009.12:g.99153668A= , CM000671.2:g.99153668A=
GRCh38
NC_000009.11:g.101915950A= , CM000671.1:g.101915950A=
GRCh37
NC_000009.10:g.100955771A=
NCBI36
NG_007461.1:g.53539A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000547314.6:c.*4363A=
ENSP00000449934.2:n.*4363A=
ENST00000552573.7:c.*4363A=
ENSP00000447182.3:n.*4363A=
ENST00000374994.9:c.*4363A=
MANE Select
ENSP00000364133.4:n.*4363A=
ENST00000374994.8:c.*4363A=
ENSP00000364133.4:n.*4363A=
NM_001130916.1:c.*4363A=
NP_001124388.1:n.*4363A=
NM_001130916.2:c.*4363A=
NP_001124388.1:n.*4363A=
NM_001306210.1:c.*4363A=
NP_001293139.1:n.*4363A=
NM_004612.2:c.*4363A=
NP_004603.1:n.*4363A=
NM_004612.3:c.*4363A=
NP_004603.1:n.*4363A=
XM_011518948.1:c.*4363A=
XP_011517250.1:n.*4363A=
XM_011518949.1:c.*4363A=
XP_011517251.1:n.*4363A=
XM_011518950.1:c.*4363A=
XP_011517252.1:n.*4363A=
NM_004612.4:c.*4363A=
MANE Select
NP_004603.1:n.*4363A=
NM_001130916.3:c.*4363A=
NP_001124388.1:n.*4363A=
NM_001306210.2:c.*4363A=
NP_001293139.1:n.*4363A=