×
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_000012.12:g.124968882C>A , CM000674.2:g.124968882C>A
GRCh38
NC_000012.11:g.125453428C>A , CM000674.1:g.125453428C>A
GRCh37
NC_000012.10:g.124019381C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000308736.7:c.1278G>T
MANE Select
ENSP00000311135.2:p.Pro426=
ENST00000544745.2:c.749G>T
ENST00000679875.1:n.1350G>T
ENST00000308736.6:c.1278G>T
ENSP00000311135.2:p.Pro426=
ENST00000539298.1:n.1378G>T
ENST00000544745.1:c.639G>T
ENSP00000439009.1:p.Pro213=
NM_032656.3:c.1278G>T
NP_116045.2:p.Pro426=
XM_005253590.2:c.1278G>T
XP_005253647.1:p.Pro426=
XM_011538597.1:c.1278G>T
XP_011536899.1:p.Pro426=
XM_011538598.1:c.1278G>T
XP_011536900.1:p.Pro426=
XM_011538599.1:c.1278G>T
XP_011536901.1:p.Pro426=
XM_011538600.1:c.1278G>T
XP_011536902.1:p.Pro426=
XM_005253590.3:c.1278G>T
XP_005253647.1:p.Pro426=
XM_011538598.2:c.1278G>T
XP_011536900.1:p.Pro426=
XM_011538600.2:c.1278G>T
XP_011536902.1:p.Pro426=
XR_001748819.1:n.1381G>T
XR_001748820.1:n.1381G>T
NM_032656.4:c.1278G>T
MANE Select
NP_116045.2:p.Pro426=