×
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_000003.12:g.120670493G>T , CM000665.2:g.120670493G>T
GRCh38
NC_000003.11:g.120389340G>T , CM000665.1:g.120389340G>T
GRCh37
NC_000003.10:g.121872030G>T
NCBI36
NG_011957.1:g.16989C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000283871.10:c.216C>A
MANE Select
ENSP00000283871.5:p.Pro72=
ENST00000283871.9:c.216C>A
ENSP00000283871.5:p.Pro72=
ENST00000466528.5:n.242C>A
ENST00000476082.2:c.93C>A
ENSP00000419560.2:p.Pro31=
ENST00000485313.5:n.324C>A
ENST00000488183.5:n.474C>A
NM_000187.3:c.216C>A
NP_000178.2:p.Pro72=
XM_005247412.1:c.216C>A
XP_005247469.1:p.Pro72=
XM_005247413.1:c.216C>A
XP_005247470.1:p.Pro72=
XM_005247414.3:c.216C>A
XP_005247471.1:p.Pro72=
XM_011512746.1:c.216C>A
XP_011511048.1:p.Pro72=
XM_005247412.2:c.216C>A
XP_005247469.1:p.Pro72=
XM_005247413.2:c.216C>A
XP_005247470.1:p.Pro72=
XM_005247414.5:c.216C>A
XP_005247471.1:p.Pro72=
XM_011512746.2:c.216C>A
XP_011511048.1:p.Pro72=
XM_017006277.2:c.-208C>A
XP_016861766.1:n.-208C>A
NM_000187.4:c.216C>A
MANE Select
NP_000178.2:p.Pro72=