Canonical Allele Identifier: CA620931010
Gene:

Linked Data

dbSNP Id: rs1429960834
gnomAD v2: 16-9343550-G-A
gnomAD v3: 16-9249693-G-A
gnomAD v4: 16-9249693-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249693G>A , CM000678.2:g.9249693G>A GRCh38
NC_000016.9:g.9343550G>A , CM000678.1:g.9343550G>A GRCh37
NC_000016.8:g.9251051G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64960G>A