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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_000016.10:g.30987865C>G , CM000678.2:g.30987865C>G
GRCh38
NC_000016.9:g.30999186C>G , CM000678.1:g.30999186C>G
GRCh37
NC_000016.8:g.30906687C>G
NCBI36
NG_012346.1:g.7668C>G
NG_041829.1:g.27644G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000297679.10:c.792C>G
MANE Select
ENSP00000297679.5:p.Pro264=
ENST00000262520.10:c.*38C>G
ENSP00000262520.6:n.*38C>G
ENST00000297679.9:c.792C>G
ENSP00000297679.5:p.Pro264=
NM_001142777.1:c.*38C>G
NP_001136249.1:n.*38C>G
NM_001142778.1:c.*38C>G
NP_001136250.1:n.*38C>G
NM_025193.3:c.792C>G
NP_079469.2:p.Pro264=
XM_005255601.3:c.792C>G
XP_005255658.2:p.Pro264=
XM_011545960.1:c.792C>G
XP_011544262.1:p.Pro264=
XM_011545961.1:c.792C>G
XP_011544263.1:p.Pro264=
XM_011545962.1:c.*38C>G
XP_011544264.1:n.*38C>G
XM_011545960.2:c.792C>G
XP_011544262.1:p.Pro264=
XM_011545962.2:c.*38C>G
XP_011544264.1:n.*38C>G
XM_017023732.1:c.*38C>G
XP_016879221.1:n.*38C>G
NM_025193.4:c.792C>G
MANE Select
NP_079469.2:p.Pro264=
NM_001142777.2:c.*38C>G
NP_001136249.1:n.*38C>G
NM_001142778.2:c.*38C>G
NP_001136250.1:n.*38C>G