×
INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500 We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.3850809G= , CM000678.2:g.3850809G=
GRCh38
NC_000016.9:g.3900810G= , CM000678.1:g.3900810G=
GRCh37
NC_000016.8:g.3840811G=
NCBI36
NG_009873.1:g.34312C=
NG_009873.2:g.34905C=
Transcript Alleles
HGVS
Amino-acid Change
NM_004380.3:c.286C=
MANE Select
NP_004371.2:p.Gln96=
ENST00000262367.10:c.286C=
MANE Select
ENSP00000262367.5:p.Gln96=
NM_001079846.1:c.286C=
NP_001073315.1:p.Gln96=
NM_004380.2:c.286C=
NP_004371.2:p.Gln96=
ENST00000262367.9:c.286C=
ENSP00000262367.5:p.Gln96=
ENST00000382070.7:c.286C=
ENSP00000371502.3:p.Gln96=
XM_005255124.3:c.286C=
XP_005255181.1:p.Gln96=
XM_005255124.4:c.286C=
XP_005255181.1:p.Gln96=
XM_005255125.3:c.286C=
XP_005255182.1:p.Gln96=
XM_005255125.4:c.286C=
XP_005255182.1:p.Gln96=
XM_006720848.2:c.286C=
XP_006720911.1:p.Gln96=
XM_006720848.3:c.286C=
XP_006720911.1:p.Gln96=
XM_011522380.1:c.232C=
XP_011520682.1:p.Gln78=
XM_011522382.1:c.286C=
XP_011520684.1:p.Gln96=
XM_011522382.3:c.286C=
XP_011520684.1:p.Gln96=
XM_017022944.1:c.286C=
XP_016878433.1:p.Gln96=