Canonical Allele Identifier: CA144319799
Gene:

Linked Data

dbSNP Id: rs920382357
gnomAD v3: 6-98102542-A-C
gnomAD v4: 6-98102542-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102542A>C , CM000668.2:g.98102542A>C GRCh38
NC_000006.11:g.98550418A>C , CM000668.1:g.98550418A>C GRCh37
NC_000006.10:g.98657139A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3272A>C
XR_942809.1:n.456+3272A>C