Canonical Allele Identifier: CA862568179
Gene:

Linked Data

dbSNP Id: rs1416044427
gnomAD v3: 9-25551385-T-C
gnomAD v4: 9-25551385-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551385T>C , CM000671.2:g.25551385T>C GRCh38
NC_000009.11:g.25551383T>C , CM000671.1:g.25551383T>C GRCh37
NC_000009.10:g.25541383T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-813A>G
XR_929525.2:n.674-813A>G