Canonical Allele Identifier: CA144309885
Gene:

Linked Data

dbSNP Id: rs1055331597
gnomAD v2: 6-98462484-G-A
gnomAD v3: 6-98014608-G-A
gnomAD v4: 6-98014608-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014608G>A , CM000668.2:g.98014608G>A GRCh38
NC_000006.11:g.98462484G>A , CM000668.1:g.98462484G>A GRCh37
NC_000006.10:g.98569205G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+45142G>A
XR_942809.1:n.371+45142G>A