Canonical Allele Identifier: CA905231288
Gene:

Linked Data

dbSNP Id: rs1161631962
gnomAD v3: 3-21207170-T-C
gnomAD v4: 3-21207170-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.21207170T>C , CM000665.2:g.21207170T>C GRCh38
NC_000003.11:g.21248662T>C , CM000665.1:g.21248662T>C GRCh37
NC_000003.10:g.21223666T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940646.1:n.254-3828T>C
XR_940646.2:n.547-3828T>C