Canonical Allele Identifier: CA1120500430
Gene:

Linked Data

dbSNP Id: rs1817920604
gnomAD v3: 9-1787567-C-T
gnomAD v4: 9-1787567-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787567C>T , CM000671.2:g.1787567C>T GRCh38
NC_000009.11:g.1787567C>T , CM000671.1:g.1787567C>T GRCh37
NC_000009.10:g.1777567C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.142+68655C>T
Search 100 bp 5'
Search 100 bp 3'