Canonical Allele Identifier: CA122736
Gene: SPTB HGNC NCBI

Linked Data

ClinVar Variation Id: 12835
ClinVar RCV Id: RCV000013684
dbSNP Id: rs121918646
MyVariant Identifiers: chr14:g.65268515A>G (hg19) chr14:g.64801797A>G (hg38)
PubMed: PMID:6215583 PMID:8102379
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64801797A>G , CM000676.2:g.64801797A>G GRCh38
NC_000014.8:g.65268515A>G , CM000676.1:g.65268515A>G GRCh37
NC_000014.7:g.64338268A>G NCBI36
NG_016202.1:g.26352T>C
NG_016202.2:g.83096T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000389720.4:c.604T>C ENSP00000374370.4:p.Trp202Arg
ENST00000644917.1:c.604T>C MANE Select ENSP00000495909.1:p.Trp202Arg
ENST00000389720.3:c.604T>C ENSP00000374370.3:p.Trp202Arg
ENST00000389721.9:c.604T>C ENSP00000374371.5:p.Trp202Arg
ENST00000389722.7:c.604T>C ENSP00000374372.3:p.Trp202Arg
ENST00000556626.5:c.604T>C ENSP00000451752.1:p.Trp202Arg
NM_000347.5:c.604T>C NP_000338.3:p.Trp202Arg
NM_001024858.2:c.604T>C NP_001020029.1:p.Trp202Arg
XM_005268023.3:c.604T>C XP_005268080.1:p.Trp202Arg
XM_011537105.1:c.604T>C XP_011535407.1:p.Trp202Arg
NM_001024858.3:c.604T>C NP_001020029.1:p.Trp202Arg
NM_001355436.2:c.604T>C MANE Select NP_001342365.1:p.Trp202Arg
NM_001355437.2:c.604T>C NP_001342366.1:p.Trp202Arg
XM_011537105.3:c.604T>C XP_011535407.1:p.Trp202Arg
XM_017021612.2:c.604T>C XP_016877101.1:p.Trp202Arg
XM_024449699.1:c.604T>C XP_024305467.1:p.Trp202Arg
NM_001024858.4:c.604T>C NP_001020029.1:p.Trp202Arg
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