Canonical Allele Identifier: CA1087465297
Gene:

Linked Data

dbSNP Id: rs1761792990
gnomAD v3: 6-31440057-A-C
gnomAD v4: 6-31440057-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31440057A>C , CM000668.2:g.31440057A>C GRCh38
NC_000006.11:g.31407834A>C , CM000668.1:g.31407834A>C GRCh37
NC_000006.10:g.31515813A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.55-5T>G