Canonical Allele Identifier: CA71252409
Gene:

Linked Data

dbSNP Id: rs991098973
gnomAD v3: 3-21207158-T-C
gnomAD v4: 3-21207158-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.21207158T>C , CM000665.2:g.21207158T>C GRCh38
NC_000003.11:g.21248650T>C , CM000665.1:g.21248650T>C GRCh37
NC_000003.10:g.21223654T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940646.1:n.254-3840T>C
XR_940646.2:n.547-3840T>C