Canonical Allele Identifier: CA15581775
Gene:

Linked Data

dbSNP Id: rs2840445
gnomAD v2: 8-5764942-G-A
gnomAD v3: 8-5907420-G-A
gnomAD v4: 8-5907420-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907420G>A , CM000670.2:g.5907420G>A GRCh38
NC_000008.10:g.5764942G>A , CM000670.1:g.5764942G>A GRCh37
NC_000008.9:g.5752350G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941374.1:n.308-7689C>T
XR_941375.1:n.308-7689C>T
XR_941376.1:n.406-7689C>T
XR_941377.1:n.308-7689C>T
XR_941378.1:n.216-7689C>T
XR_001745765.1:n.308-7689C>T
XR_001745766.1:n.406-7689C>T
XR_001745767.1:n.216-7689C>T
XR_001745768.1:n.308-7689C>T
XR_941374.2:n.308-7689C>T
XR_941375.2:n.308-7689C>T