×
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_000001.11:g.40097239C= , CM000663.2:g.40097239C=
GRCh38
NC_000001.10:g.40562911C= , CM000663.1:g.40562911C=
GRCh37
NC_000001.9:g.40335498C=
NCBI36
NG_009192.1:g.5232G= , LRG_690:g.5232G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000372779.9:c.-1G=
ENSP00000361865.5:n.-1G=
ENST00000433473.8:c.-1G=
ENSP00000394863.4:n.-1G=
ENST00000439754.6:c.-1G=
ENSP00000403207.2:n.-1G=
ENST00000449045.7:c.-1G=
ENSP00000392293.2:n.-1G=
ENST00000527311.7:c.-1G=
ENSP00000436695.3:n.-1G=
ENST00000530704.6:c.-1G=
ENSP00000431655.1:n.-1G=
ENST00000641236.1:n.12G=
ENST00000641319.1:c.-1G=
ENSP00000493128.1:n.-1G=
ENST00000641471.1:c.-1G=
ENSP00000493146.1:n.-1G=
ENST00000641548.1:c.-1G=
ENSP00000492984.1:n.-1G=
ENST00000641691.1:c.-1G=
ENSP00000492910.1:n.-1G=
ENST00000641924.1:c.-1G=
ENSP00000493063.1:n.-1G=
ENST00000642050.2:c.-1G=
MANE Select
ENSP00000493153.1:n.-1G=
ENST00000372779.8:c.-1G=
ENSP00000361865.4:n.-1G=
ENST00000433473.7:c.-1G=
ENSP00000394863.3:n.-1G=
ENST00000449045.6:c.-1G=
ENSP00000392293.2:n.-1G=
ENST00000527311.6:c.-1G=
ENSP00000436695.2:n.-1G=
ENST00000529905.5:c.-1G=
ENSP00000432053.1:n.-1G=
ENST00000530704.5:c.-1G=
ENSP00000431655.1:n.-1G=
NM_000310.3:c.-1G= , LRG_690t1:c.-1G=
NP_000301.1:n.-1G=
NM_001142604.1:c.-1G=
NP_001136076.1:n.-1G=
XM_005271008.1:c.-1G=
XP_005271065.1:n.-1G=
NM_001363695.1:c.-1G=
NP_001350624.1:n.-1G=
NM_000310.4:c.-1G=
MANE Select
NP_000301.1:n.-1G=
NM_001142604.2:c.-1G=
NP_001136076.1:n.-1G=
NM_001363695.2:c.-1G=
NP_001350624.1:n.-1G=