×
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_000009.12:g.91220841C= , CM000671.2:g.91220841C=
GRCh38
NC_000009.11:g.93983123C= , CM000671.1:g.93983123C=
GRCh37
NC_000009.10:g.93022944C=
NCBI36
NG_008017.1:g.146084G= , LRG_449:g.146084G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.807G=
MANE Select
ENSP00000364883.5:p.Arg269=
ENST00000303617.5:c.720G=
ENSP00000307334.5:p.Arg240=
ENST00000375731.8:c.807G=
ENSP00000364883.4:p.Arg269=
ENST00000473695.1:n.79G=
NM_001306190.1:c.720G=
NP_001293119.1:p.Arg240=
NM_001698.2:c.807G= , LRG_449t1:c.807G=
NP_001689.1:p.Arg269=
XM_005252066.2:c.837G=
XP_005252123.1:p.Arg279=
XM_005252067.3:c.837G=
XP_005252124.1:p.Arg279=
XM_005252069.3:c.837G=
XP_005252126.1:p.Arg279=
XM_005252073.2:c.345G=
XP_005252130.1:p.Arg115=
XM_006717150.2:c.750G=
XP_006717213.1:p.Arg250=
XM_011518801.1:c.483G=
XP_011517103.1:p.Arg161=
XM_011518802.1:c.480G=
XP_011517104.1:p.Arg160=
NM_001351431.1:c.480G=
NP_001338360.1:p.Arg160=
NM_001351432.1:c.480G=
NP_001338361.1:p.Arg160=
NM_001351433.1:c.480G=
NP_001338362.1:p.Arg160=
XM_005252066.3:c.837G=
XP_005252123.1:p.Arg279=
XM_005252067.4:c.837G=
XP_005252124.1:p.Arg279=
XM_005252069.4:c.837G=
XP_005252126.1:p.Arg279=
XM_006717150.3:c.750G=
XP_006717213.1:p.Arg250=
XM_017014849.1:c.807G=
XP_016870338.1:p.Arg269=
XR_001746328.2:n.1032G=
XR_001746329.2:n.984G=
NM_001698.3:c.807G=
MANE Select
NP_001689.1:p.Arg269=
NM_001306190.2:c.720G=
NP_001293119.1:p.Arg240=
NM_001351431.2:c.480G=
NP_001338360.1:p.Arg160=
NM_001351432.2:c.480G=
NP_001338361.1:p.Arg160=
NM_001351433.2:c.480G=
NP_001338362.1:p.Arg160=