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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.5711358G>T , CM000666.2:g.5711358G>T
GRCh38
NC_000004.11:g.5713085G>T , CM000666.1:g.5713085G>T
GRCh37
NC_000004.10:g.5763986G>T
NCBI36
NG_008843.1:g.5162G>T
NG_015821.1:g.3191C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264956.11:c.-23G>T
MANE Select
ENSP00000264956.6:n.-23G>T
ENST00000264956.10:c.-23G>T
ENSP00000264956.6:n.-23G>T
ENST00000509451.1:c.-23G>T
ENSP00000426774.1:n.-23G>T
NM_001306090.1:c.-23G>T
NP_001293019.1:n.-23G>T
NM_001306092.1:c.-23G>T
NP_001293021.1:n.-23G>T
NM_153717.2:c.-23G>T
NP_714928.1:n.-23G>T
XM_006713865.2:c.-23G>T
XP_006713928.1:n.-23G>T
XM_006713866.2:c.-23G>T
XP_006713929.1:n.-23G>T
XM_011513419.1:c.-23G>T
XP_011511721.1:n.-23G>T
XR_427473.2:n.168G>T
XR_427475.2:n.168G>T
XR_427476.2:n.168G>T
XR_924920.1:n.168G>T
XR_924921.1:n.168G>T
XR_924922.1:n.168G>T
XR_924923.1:n.168G>T
XR_924924.1:n.168G>T
XR_924925.1:n.168G>T
XR_924926.1:n.168G>T
XR_924927.1:n.168G>T
XR_924928.1:n.170G>T
XM_006713865.3:c.-23G>T
XP_006713928.1:n.-23G>T
XM_006713866.3:c.-23G>T
XP_006713929.1:n.-23G>T
XM_011513419.2:c.-23G>T
XP_011511721.1:n.-23G>T
XM_017007883.2:c.-23G>T
XP_016863372.1:n.-23G>T
XR_001741164.1:n.158G>T
XR_001741165.1:n.158G>T
XR_001741166.1:n.158G>T
XR_001741167.1:n.158G>T
XR_001741168.1:n.158G>T
XR_001741169.2:n.160G>T
XR_001741170.1:n.160G>T
XR_427473.3:n.158G>T
XR_427475.3:n.158G>T
XR_427476.3:n.158G>T
XR_924920.2:n.158G>T
XR_924921.2:n.158G>T
XR_924922.2:n.158G>T
XR_924924.2:n.158G>T
XR_924925.2:n.158G>T
XR_924926.2:n.158G>T
NM_153717.3:c.-23G>T
MANE Select
NP_714928.1:n.-23G>T
NM_001306090.2:c.-23G>T
NP_001293019.1:n.-23G>T
NM_001306092.2:c.-23G>T
NP_001293021.1:n.-23G>T