×
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.227164666C>T , CM000664.2:g.227164666C>T
GRCh38
NC_000002.11:g.228029382C>T , CM000664.1:g.228029382C>T
GRCh37
NC_000002.10:g.227737626C>T
NCBI36
NG_011591.1:g.5102C>T , LRG_230:g.5102C>T
NG_011592.1:g.4894G>A , LRG_231:g.4894G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396578.8:c.-61C>T
MANE Select
ENSP00000379823.3:n.-61C>T
ENST00000396578.7:c.-61C>T
ENSP00000379823.3:n.-61C>T
NM_000091.4:c.-61C>T , LRG_230t1:c.-61C>T
NP_000082.2:n.-61C>T
XM_005246276.2:c.-61C>T
XP_005246333.1:n.-61C>T
XM_005246277.2:c.-61C>T
XP_005246334.1:n.-61C>T
XM_005246280.2:c.-61C>T
XP_005246337.1:n.-61C>T
XM_006712245.2:c.-61C>T
XP_006712308.1:n.-61C>T
XM_011510555.1:c.-61C>T
XP_011508857.1:n.-61C>T
XR_241280.2:n.78C>T
XM_005246277.3:c.-61C>T
XP_005246334.1:n.-61C>T
XM_005246280.3:c.-61C>T
XP_005246337.1:n.-61C>T
XM_006712245.3:c.-61C>T
XP_006712308.1:n.-61C>T
XM_017003295.1:c.-61C>T
XP_016858784.1:n.-61C>T
XR_001738601.1:n.78C>T
XR_241280.3:n.78C>T
NM_000091.5:c.-61C>T
MANE Select
NP_000082.2:n.-61C>T