×
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_000002.12:g.227164684T= , CM000664.2:g.227164684T=
GRCh38
NC_000002.11:g.228029400T= , CM000664.1:g.228029400T=
GRCh37
NC_000002.10:g.227737644T=
NCBI36
NG_011591.1:g.5120T= , LRG_230:g.5120T=
NG_011592.1:g.4876A= , LRG_231:g.4876A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396578.8:c.-43T=
MANE Select
ENSP00000379823.3:n.-43T=
ENST00000396578.7:c.-43T=
ENSP00000379823.3:n.-43T=
NM_000091.4:c.-43T= , LRG_230t1:c.-43T=
NP_000082.2:n.-43T=
XM_005246276.2:c.-43T=
XP_005246333.1:n.-43T=
XM_005246277.2:c.-43T=
XP_005246334.1:n.-43T=
XM_005246280.2:c.-43T=
XP_005246337.1:n.-43T=
XM_006712245.2:c.-43T=
XP_006712308.1:n.-43T=
XM_011510555.1:c.-43T=
XP_011508857.1:n.-43T=
XR_241280.2:n.96T=
XM_005246277.3:c.-43T=
XP_005246334.1:n.-43T=
XM_005246280.3:c.-43T=
XP_005246337.1:n.-43T=
XM_006712245.3:c.-43T=
XP_006712308.1:n.-43T=
XM_017003295.1:c.-43T=
XP_016858784.1:n.-43T=
XR_001738601.1:n.96T=
XR_241280.3:n.96T=
NM_000091.5:c.-43T=
MANE Select
NP_000082.2:n.-43T=