×
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.97675483T= , CM000671.2:g.97675483T=
GRCh38
NC_000009.11:g.100437765T= , CM000671.1:g.100437765T=
GRCh37
NC_000009.10:g.99477586T=
NCBI36
NG_011642.1:g.26927A= , LRG_471:g.26927A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.778A=
MANE Select
ENSP00000364270.5:p.Thr260=
ENST00000375128.4:c.778A=
ENSP00000364270.4:p.Thr260=
ENST00000462523.5:c.*214A=
ENSP00000433006.1:n.*214A=
ENST00000485042.1:n.290A=
NM_000380.3:c.778A= , LRG_471t1:c.778A=
NP_000371.1:p.Thr260=
NR_027302.1:n.1126A=
XM_006717278.1:c.772+6A=
XP_006717341.1:n.772+6A=
XM_011518988.1:c.772+6A=
XP_011517290.1:n.772+6A=
NM_001354975.1:c.652A=
NP_001341904.1:p.Thr218=
NR_149091.1:n.623A=
NR_149092.1:n.789A=
NR_149093.1:n.1315A=
NR_149094.1:n.1209A=
NM_000380.4:c.778A=
MANE Select
NP_000371.1:p.Thr260=
NM_001354975.2:c.652A=
NP_001341904.1:p.Thr218=
NR_027302.2:n.1057A=
NR_149091.2:n.554A=
NR_149092.2:n.720A=
NR_149093.2:n.1246A=
NR_149094.2:n.1140A=