Canonical Allele Identifier: CA304893465
Gene:

Linked Data

dbSNP Id: rs563520447
gnomAD v3: 19-7522601-C-T
gnomAD v4: 19-7522601-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522601C>T , CM000681.2:g.7522601C>T GRCh38
NC_000019.9:g.7587487C>T , CM000681.1:g.7587487C>T GRCh37
NC_000019.8:g.7493487C>T NCBI36
NG_015806.1:g.4992C>T

Transcript Alleles

HGVS Amino-acid change
XR_936293.1:n.926+241G>A
XR_936294.1:n.926+241G>A
XR_936295.1:n.570+241G>A
XR_936293.2:n.952+241G>A
XR_936294.2:n.952+241G>A