Canonical Allele Identifier: CA15422042
Gene:

Linked Data

dbSNP Id: rs9469004
gnomAD v2: 6-31407896-T-C
gnomAD v3: 6-31440119-T-C
gnomAD v4: 6-31440119-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31440119T>C , CM000668.2:g.31440119T>C GRCh38
NC_000006.11:g.31407896T>C , CM000668.1:g.31407896T>C GRCh37
NC_000006.10:g.31515875T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.55-67A>G