Canonical Allele Identifier: CA586058608
Gene:

Linked Data

dbSNP Id: rs1469384215
gnomAD v2: 9-1787647-C-T
gnomAD v3: 9-1787647-C-T
gnomAD v4: 9-1787647-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787647C>T , CM000671.2:g.1787647C>T GRCh38
NC_000009.11:g.1787647C>T , CM000671.1:g.1787647C>T GRCh37
NC_000009.10:g.1777647C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.142+68735C>T