×
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_000018.10:g.63318662G= , CM000680.2:g.63318662G=
GRCh38
NC_000018.9:g.60985895G= , CM000680.1:g.60985895G=
GRCh37
NC_000018.8:g.59136875G=
NCBI36
NG_009361.1:g.5719C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000333681.5:c.5C=
MANE Select
ENSP00000329623.3:p.Ala2=
ENST00000677227.1:c.5C=
ENSP00000504566.1:p.Ala2=
ENST00000678134.1:c.5C=
ENSP00000503628.1:p.Ala2=
ENST00000678349.1:c.5C=
ENSP00000504190.1:p.Ala2=
ENST00000333681.4:c.5C=
ENSP00000329623.3:p.Ala2=
ENST00000398117.1:c.5C=
ENSP00000381185.1:p.Ala2=
ENST00000589955.2:c.5C=
ENSP00000466417.1:p.Ala2=
NM_000633.2:c.5C=
NP_000624.2:p.Ala2=
NM_000657.2:c.5C=
NP_000648.2:p.Ala2=
XM_011526135.1:c.5C=
XP_011524437.1:p.Ala2=
XR_935246.1:n.1117C=
XR_935247.1:n.1117C=
XR_935248.1:n.896C=
XM_011526135.3:c.5C=
XP_011524437.1:p.Ala2=
XM_017025917.2:c.5C=
XP_016881406.1:p.Ala2=
XR_935248.3:n.1398C=
NM_000633.3:c.5C=
MANE Select
NP_000624.2:p.Ala2=
NM_000657.3:c.5C=
NP_000648.2:p.Ala2=