Canonical Allele Identifier: CA797158789
Gene:

Linked Data

dbSNP Id: rs1330400047
gnomAD v3: 4-62558412-T-C
gnomAD v4: 4-62558412-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558412T>C , CM000666.2:g.62558412T>C GRCh38
NC_000004.11:g.63424130T>C , CM000666.1:g.63424130T>C GRCh37
NC_000004.10:g.63106725T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5432T>C