Canonical Allele Identifier: CA761272663
Gene:

Linked Data

dbSNP Id: rs1201439839
gnomAD v3: 2-17844060-T-C
gnomAD v4: 2-17844060-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.17844060T>C , CM000664.2:g.17844060T>C GRCh38
NC_000002.11:g.18025327T>C , CM000664.1:g.18025327T>C GRCh37
NC_000002.10:g.17888808T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939764.2:n.447+3634A>G