Canonical Allele Identifier: CA15505491
Gene:

Linked Data

dbSNP Id: rs2107595
gnomAD v2: 7-19049388-G-A
gnomAD v3: 7-19009765-G-A
gnomAD v4: 7-19009765-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19009765G>A , CM000669.2:g.19009765G>A GRCh38
NC_000007.13:g.19049388G>A , CM000669.1:g.19049388G>A GRCh37
NC_000007.12:g.19015913G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927080.1:n.265-8518C>T