Canonical Allele Identifier: CA2607136819
Gene:

Linked Data

dbSNP Id: rs1688119207
gnomAD v3: 2-195006978-G-C
gnomAD v4: 2-195006978-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195006978G>C , CM000664.2:g.195006978G>C GRCh38
NC_000002.11:g.195871702G>C , CM000664.1:g.195871702G>C GRCh37
NC_000002.10:g.195579947G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739836.1:n.553+52457C>G
Search 100 bp 5'
Search 100 bp 3'