Canonical Allele Identifier: CA569191035
Gene:

Linked Data

dbSNP Id: rs551175776
gnomAD v2: 6-98550321-A-G
gnomAD v3: 6-98102445-A-G
gnomAD v4: 6-98102445-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102445A>G , CM000668.2:g.98102445A>G GRCh38
NC_000006.11:g.98550321A>G , CM000668.1:g.98550321A>G GRCh37
NC_000006.10:g.98657042A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_245563.2:n.456+3175A>G
XR_942809.1:n.456+3175A>G