×
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.53123739T= , CM000665.2:g.53123739T=
GRCh38
NC_000003.11:g.53157755T= , CM000665.1:g.53157755T=
GRCh37
NC_000003.10:g.53132795T=
NCBI36
NG_009203.1:g.11716A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296292.8:c.251A=
MANE Select
ENSP00000296292.3:p.Asn84=
ENST00000296292.7:c.251A=
ENSP00000296292.3:p.Asn84=
ENST00000394738.7:c.150-1176A=
ENSP00000378223.3:n.150-1176A=
ENST00000467048.1:c.251A=
ENSP00000420325.1:p.Asn84=
NM_052859.3:c.251A=
NP_443091.1:p.Asn84=
XM_005265537.3:c.251A=
XP_005265594.1:p.Asn84=
XM_006713384.2:c.251A=
XP_006713447.1:p.Asn84=
XM_011534214.1:c.251A=
XP_011532516.1:p.Asn84=
XM_011534215.1:c.251A=
XP_011532517.1:p.Asn84=
XR_940507.1:n.310A=
XM_005265537.4:c.251A=
XP_005265594.1:p.Asn84=
XM_006713384.3:c.251A=
XP_006713447.1:p.Asn84=
XM_011534214.2:c.251A=
XP_011532516.1:p.Asn84=
XM_011534215.3:c.251A=
XP_011532517.1:p.Asn84=
XM_011534216.3:c.-590A=
XP_011532518.1:n.-590A=
XM_017007460.1:c.251A=
XP_016862949.1:p.Asn84=
XM_017007461.2:c.-590A=
XP_016862950.1:n.-590A=
XR_001740360.2:n.317A=
NM_052859.4:c.251A=
MANE Select
NP_443091.1:p.Asn84=