Canonical Allele Identifier: CA586058592
Gene:

Linked Data

dbSNP Id: rs1413448155
gnomAD v2: 9-1787591-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787591T>C , CM000671.2:g.1787591T>C GRCh38
NC_000009.11:g.1787591T>C , CM000671.1:g.1787591T>C GRCh37
NC_000009.10:g.1777591T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746599.1:n.142+68679T>C