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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.137459109G= , CM000671.2:g.137459109G=
GRCh38
NC_000009.11:g.140353561G= , CM000671.1:g.140353561G=
GRCh37
NC_000009.10:g.139473382G=
NCBI36
NG_021362.1:g.5226C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265663.12:c.-7C=
ENSP00000265663.7:n.-7C=
ENST00000371475.9:c.-7C=
MANE Select
ENSP00000360530.3:n.-7C=
ENST00000265663.11:c.-7C=
ENSP00000265663.7:n.-7C=
ENST00000371472.6:c.-7C=
ENSP00000360527.1:n.-7C=
ENST00000371473.7:c.-7C=
ENSP00000360528.3:n.-7C=
ENST00000371474.7:c.-7C=
ENSP00000360529.3:n.-7C=
ENST00000371475.7:c.-7C=
ENSP00000360530.3:n.-7C=
ENST00000437259.5:c.-7C=
ENSP00000412007.1:n.-7C=
NM_001130969.1:c.-7C=
NP_001124441.1:n.-7C=
NM_001130970.1:c.-7C=
NP_001124442.1:n.-7C=
NM_001130971.1:c.-7C=
NP_001124443.1:n.-7C=
NM_001178064.1:c.-7C=
NP_001171535.1:n.-7C=
NM_015537.4:c.-7C=
NP_056352.3:n.-7C=
XM_005266061.3:c.-7C=
XP_005266118.1:n.-7C=
XM_005266062.3:c.-7C=
XP_005266119.1:n.-7C=
XM_011518496.1:c.-7C=
XP_011516798.1:n.-7C=
XM_005266061.5:c.-7C=
XP_005266118.1:n.-7C=
XM_005266062.5:c.-7C=
XP_005266119.1:n.-7C=
XM_011518496.3:c.-7C=
XP_011516798.1:n.-7C=
NM_001130969.3:c.-7C=
MANE Select
NP_001124441.1:n.-7C=
NM_001130970.2:c.-7C=
NP_001124442.1:n.-7C=
NM_001130971.2:c.-7C=
NP_001124443.1:n.-7C=
NM_001178064.2:c.-7C=
NP_001171535.1:n.-7C=
NM_015537.5:c.-7C=
NP_056352.3:n.-7C=