Canonical Allele Identifier: CA786695537
Gene:

Linked Data

dbSNP Id: rs1415663765
gnomAD v3: 4-12578173-G-A
gnomAD v4: 4-12578173-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578173G>A , CM000666.2:g.12578173G>A GRCh38
NC_000004.11:g.12579797G>A , CM000666.1:g.12579797G>A GRCh37
NC_000004.10:g.12188895G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31169C>T
XR_001741374.1:n.254+44482C>T
XR_925406.3:n.140+31169C>T