×
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_000011.10:g.121558816C>T , CM000673.2:g.121558816C>T
GRCh38
NC_000011.9:g.121429525C>T , CM000673.1:g.121429525C>T
GRCh37
NC_000011.8:g.120934735C>T
NCBI36
NG_023313.1:g.111565C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260197.12:c.2889C>T
MANE Select
ENSP00000260197.6:p.Pro963=
ENST00000260197.11:c.2889C>T
ENSP00000260197.6:p.Pro963=
ENST00000529445.1:n.595C>T
NM_003105.5:c.2889C>T
NP_003096.1:p.Pro963=
XM_011542963.1:c.2889C>T
XP_011541265.1:p.Pro963=
XM_011542964.1:c.2889C>T
XP_011541266.1:p.Pro963=
XM_011542965.1:c.1350C>T
XP_011541267.1:p.Pro450=
XM_011542966.1:c.249C>T
XP_011541268.1:p.Pro83=
XM_011542963.3:c.2889C>T
XP_011541265.1:p.Pro963=
XM_011542965.3:c.1350C>T
XP_011541267.1:p.Pro450=
XM_017018169.2:c.2577C>T
XP_016873658.1:p.Pro859=
XM_017018170.2:c.2364C>T
XP_016873659.1:p.Pro788=
XM_017018171.1:c.2889C>T
XP_016873660.1:p.Pro963=
XM_017018172.2:c.249C>T
XP_016873661.1:p.Pro83=
NM_003105.6:c.2889C>T
MANE Select
NP_003096.2:p.Pro963=