Canonical Allele Identifier: CA834446591
Gene: TRBC1 HGNC NCBI
PRSS1 HGNC NCBI
PRSS2 HGNC NCBI

Linked Data

dbSNP Id: rs1479387707
gnomAD v3: 7-142753660-C-G
gnomAD v4: 7-142753660-C-G
MyVariant Identifiers: chr7:g.142461511C>G (hg19) chr7:g.142753660C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142753660C>G , CM000669.2:g.142753660C>G GRCh38
NC_000007.13:g.142461511C>G , CM000669.1:g.142461511C>G GRCh37
NC_000007.12:g.142141085C>G NCBI36
NG_008307.3:g.9177C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610416.2:c.370+32474C>G (TRBC1) ENSP00000482915.1:n.370+32474C>G
ENST00000612126.4:c.591+1093C>G (PRSS1) ENSP00000479959.1:n.591+1093C>G
ENST00000633114.1:c.321+1766C>G (PRSS2) ENSP00000487822.1:n.321+1766C>G
ENST00000634019.1:c.82+4869C>G (PRSS2) ENSP00000488594.1:n.82+4869C>G
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