×
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.42410359C= , CM000666.2:g.42410359C=
GRCh38
NC_000004.11:g.42412376C= , CM000666.1:g.42412376C=
GRCh37
NC_000004.10:g.42107133C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000700470.1:c.*2557G=
ENSP00000515003.1:n.*2557G=
ENST00000264449.14:c.*2557G=
ENSP00000264449.10:n.*2557G=
ENST00000381668.9:c.*2557G=
MANE Select
ENSP00000371084.5:n.*2557G=
ENST00000514372.5:c.3932G=
ENSP00000426495.1:n.3932G=
NM_001105529.1:c.*2557G=
NP_001098999.1:n.*2557G=
NM_006095.2:c.*2557G=
MANE Select
NP_006086.1:n.*2557G=
XM_005248043.2:c.*2557G=
XP_005248100.1:n.*2557G=
XM_011513615.1:c.*2557G=
XP_011511917.1:n.*2557G=
XM_011513616.1:c.*2557G=
XP_011511918.1:n.*2557G=
XM_011513618.1:c.*2557G=
XP_011511920.1:n.*2557G=
XM_011513619.1:c.*2557G=
XP_011511921.1:n.*2557G=
XR_925118.1:n.6106G=
XM_005248043.3:c.*2557G=
XP_005248100.1:n.*2557G=
XM_011513615.2:c.*2557G=
XP_011511917.1:n.*2557G=
XM_011513616.3:c.*2557G=
XP_011511918.1:n.*2557G=
XM_011513618.2:c.*2557G=
XP_011511920.1:n.*2557G=
XM_017007645.2:c.*2557G=
XP_016863134.1:n.*2557G=
XM_017007646.1:c.*2557G=
XP_016863135.1:n.*2557G=
XM_017007647.1:c.*2557G=
XP_016863136.1:n.*2557G=
XR_001741094.2:n.6125G=
XR_925117.3:n.6319G=
XR_925118.2:n.6111G=
NM_001400024.1:c.*2557G=
NP_001386953.1:n.*2557G=
NM_001400025.1:c.*2557G=
NP_001386954.1:n.*2557G=
NM_001400026.1:c.*2557G=
NP_001386955.1:n.*2557G=
NM_001400027.1:c.*2557G=
NP_001386956.1:n.*2557G=