Canonical Allele Identifier: CA191701679
Gene:

Linked Data

dbSNP Id: rs972821052
gnomAD v2: 9-25551208-C-T
gnomAD v3: 9-25551210-C-T
gnomAD v4: 9-25551210-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551210C>T , CM000671.2:g.25551210C>T GRCh38
NC_000009.11:g.25551208C>T , CM000671.1:g.25551208C>T GRCh37
NC_000009.10:g.25541208C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-638G>A
XR_929525.2:n.674-638G>A