Canonical Allele Identifier: CA862567931
Gene:

Linked Data

dbSNP Id: rs1343377939
gnomAD v3: 9-25551080-G-C
gnomAD v4: 9-25551080-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551080G>C , CM000671.2:g.25551080G>C GRCh38
NC_000009.11:g.25551078G>C , CM000671.1:g.25551078G>C GRCh37
NC_000009.10:g.25541078G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-508C>G
XR_929525.2:n.674-508C>G