Canonical Allele Identifier: CA12180353
Gene:

Linked Data

dbSNP Id: rs438259
gnomAD v2: 6-9030336-G-A
gnomAD v3: 6-9030103-G-A
gnomAD v4: 6-9030103-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.9030103G>A , CM000668.2:g.9030103G>A GRCh38
NC_000006.11:g.9030336G>A , CM000668.1:g.9030336G>A GRCh37
NC_000006.10:g.8975335G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926449.1:n.144-16317G>A
XR_926450.1:n.270-16317G>A
XR_001743951.1:n.585-16317G>A
XR_001743952.1:n.279-16317G>A
XR_001743953.1:n.279-16317G>A
XR_926450.2:n.280-16317G>A