Canonical Allele Identifier: CA12201616
Gene:

Linked Data

dbSNP Id: rs1487441
gnomAD v2: 6-98553894-G-A
gnomAD v3: 6-98106018-G-A
gnomAD v4: 6-98106018-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98106018G>A , CM000668.2:g.98106018G>A GRCh38
NC_000006.11:g.98553894G>A , CM000668.1:g.98553894G>A GRCh37
NC_000006.10:g.98660615G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_245563.2:n.456+6748G>A
XR_942809.1:n.456+6748G>A