×
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.97675538A>T , CM000671.2:g.97675538A>T
GRCh38
NC_000009.11:g.100437820A>T , CM000671.1:g.100437820A>T
GRCh37
NC_000009.10:g.99477641A>T
NCBI36
NG_011642.1:g.26872T>A , LRG_471:g.26872T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.723T>A
MANE Select
ENSP00000364270.5:p.Val241=
ENST00000375128.4:c.723T>A
ENSP00000364270.4:p.Val241=
ENST00000462523.5:c.*159T>A
ENSP00000433006.1:n.*159T>A
ENST00000485042.1:n.235T>A
NM_000380.3:c.723T>A , LRG_471t1:c.723T>A
NP_000371.1:p.Val241=
NR_027302.1:n.1071T>A
XM_006717278.1:c.723T>A
XP_006717341.1:p.Val241=
XM_011518988.1:c.723T>A
XP_011517290.1:p.Val241=
XR_929839.1:n.1254T>A
NM_001354975.1:c.597T>A
NP_001341904.1:p.Val199=
NR_149091.1:n.568T>A
NR_149092.1:n.734T>A
NR_149093.1:n.1260T>A
NR_149094.1:n.1154T>A
NM_000380.4:c.723T>A
MANE Select
NP_000371.1:p.Val241=
NM_001354975.2:c.597T>A
NP_001341904.1:p.Val199=
NR_027302.2:n.1002T>A
NR_149091.2:n.499T>A
NR_149092.2:n.665T>A
NR_149093.2:n.1191T>A
NR_149094.2:n.1085T>A