Canonical Allele Identifier: CA144309917
Gene:

Linked Data

dbSNP Id: rs938084810
gnomAD v3: 6-98014832-G-A
gnomAD v4: 6-98014832-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014832G>A , CM000668.2:g.98014832G>A GRCh38
NC_000006.11:g.98462708G>A , CM000668.1:g.98462708G>A GRCh37
NC_000006.10:g.98569429G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+45366G>A
XR_942809.1:n.371+45366G>A