Canonical Allele Identifier: CA432926175
Gene: STT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 513254
ClinVar RCV Id: RCV000615881
dbSNP Id: rs1553608923
gnomAD v4: 3-31629366-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.31629366T>C , CM000665.2:g.31629366T>C GRCh38
NC_000003.11:g.31670858T>C , CM000665.1:g.31670858T>C GRCh37
NC_000003.10:g.31645862T>C NCBI36
NG_034164.1:g.101866T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295770.4:c.2142T>C MANE Select ENSP00000295770.2:p.Asn714=
ENST00000295770.3:c.2142T>C ENSP00000295770.2:p.Asn714=
ENST00000463044.1:n.136T>C
ENST00000488151.1:n.116T>C
NM_178862.2:c.2142T>C NP_849193.1:p.Asn714=
XM_017005857.2:c.2142T>C XP_016861346.1:p.Asn714=
XM_017005858.1:c.1704T>C XP_016861347.1:p.Asn568=
XM_017005859.2:c.1704T>C XP_016861348.1:p.Asn568=
NM_178862.3:c.2142T>C MANE Select NP_849193.1:p.Asn714=