×
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.91361821C>A , CM000671.2:g.91361821C>A
GRCh38
NC_000009.11:g.94124103C>A , CM000671.1:g.94124103C>A
GRCh37
NC_000009.10:g.93163924C>A
NCBI36
NG_008017.1:g.5104G>T , LRG_449:g.5104G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.69G>T
MANE Select
ENSP00000364883.5:p.Val23=
ENST00000303617.5:c.69G>T
ENSP00000307334.5:p.Val23=
ENST00000375731.8:c.69G>T
ENSP00000364883.4:p.Val23=
ENST00000478465.5:n.67G>T
NM_001306190.1:c.69G>T
NP_001293119.1:p.Val23=
NM_001698.2:c.69G>T , LRG_449t1:c.69G>T
NP_001689.1:p.Val23=
XM_005252066.2:c.69G>T
XP_005252123.1:p.Val23=
XM_005252067.3:c.69G>T
XP_005252124.1:p.Val23=
XM_005252069.3:c.69G>T
XP_005252126.1:p.Val23=
XM_005252072.1:c.69G>T
XP_005252129.1:p.Val23=
XM_006717150.2:c.69G>T
XP_006717213.1:p.Val23=
XM_011518800.1:c.69G>T
XP_011517102.1:p.Val23=
XM_011518803.1:c.69G>T
XP_011517105.1:p.Val23=
XM_011518804.1:c.69G>T
XP_011517106.1:p.Val23=
XR_929814.1:n.119G>T
NM_001351431.1:c.-329G>T
NP_001338360.1:n.-329G>T
NM_001351432.1:c.-421G>T
NP_001338361.1:n.-421G>T
NM_001351433.1:c.-329G>T
NP_001338362.1:n.-329G>T
XM_005252066.3:c.69G>T
XP_005252123.1:p.Val23=
XM_005252067.4:c.69G>T
XP_005252124.1:p.Val23=
XM_005252069.4:c.69G>T
XP_005252126.1:p.Val23=
XM_005252072.2:c.69G>T
XP_005252129.1:p.Val23=
XM_006717150.3:c.69G>T
XP_006717213.1:p.Val23=
XM_011518800.3:c.69G>T
XP_011517102.1:p.Val23=
XM_011518803.2:c.69G>T
XP_011517105.1:p.Val23=
XM_017014849.1:c.69G>T
XP_016870338.1:p.Val23=
XR_001746328.2:n.122G>T
XR_001746329.2:n.104G>T
NM_001698.3:c.69G>T
MANE Select
NP_001689.1:p.Val23=
NM_001306190.2:c.69G>T
NP_001293119.1:p.Val23=
NM_001351431.2:c.-329G>T
NP_001338360.1:n.-329G>T
NM_001351432.2:c.-421G>T
NP_001338361.1:n.-421G>T
NM_001351433.2:c.-329G>T
NP_001338362.1:n.-329G>T