Canonical Allele Identifier: CA834446663
Gene: TRBC1 HGNC NCBI
PRSS1 HGNC NCBI
PRSS2 HGNC NCBI

Linked Data

dbSNP Id: rs1343796086
gnomAD v3: 7-142753756-G-A
gnomAD v4: 7-142753756-G-A
MyVariant Identifiers: chr7:g.142461607G>A (hg19) chr7:g.142753756G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142753756G>A , CM000669.2:g.142753756G>A GRCh38
NC_000007.13:g.142461607G>A , CM000669.1:g.142461607G>A GRCh37
NC_000007.12:g.142141181G>A NCBI36
NG_008307.3:g.9273G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000610416.2:c.370+32570G>A (TRBC1) ENSP00000482915.1:n.370+32570G>A
ENST00000612126.4:c.591+1189G>A (PRSS1) ENSP00000479959.1:n.591+1189G>A
ENST00000633114.1:c.321+1862G>A (PRSS2) ENSP00000487822.1:n.321+1862G>A
ENST00000634019.1:c.82+4965G>A (PRSS2) ENSP00000488594.1:n.82+4965G>A
Search 100 bp 5'
Search 100 bp 3'