Canonical Allele Identifier: CA99746698
Gene:

Linked Data

dbSNP Id: rs16850885
gnomAD v2: 4-75170140-G-A
gnomAD v3: 4-74304423-G-A
gnomAD v4: 4-74304423-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74304423G>A , CM000666.2:g.74304423G>A GRCh38
NC_000004.11:g.75170140G>A , CM000666.1:g.75170140G>A GRCh37
NC_000004.10:g.75389004G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_938877.1:n.120-25645C>T
XR_938877.2:n.126-25645C>T