Canonical Allele Identifier: CA15481670
Gene:

Linked Data

dbSNP Id: rs12202969
gnomAD v2: 6-98576223-G-A
gnomAD v3: 6-98128347-G-A
gnomAD v4: 6-98128347-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98128347G>A , CM000668.2:g.98128347G>A GRCh38
NC_000006.11:g.98576223G>A , CM000668.1:g.98576223G>A GRCh37
NC_000006.10:g.98682944G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_942809.1:n.456+29077G>A