Canonical Allele Identifier: CA191701665
Gene:

Linked Data

dbSNP Id: rs182817166
gnomAD v2: 9-25551104-C-T
gnomAD v3: 9-25551106-C-T
gnomAD v4: 9-25551106-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551106C>T , CM000671.2:g.25551106C>T GRCh38
NC_000009.11:g.25551104C>T , CM000671.1:g.25551104C>T GRCh37
NC_000009.10:g.25541104C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-534G>A
XR_929525.2:n.674-534G>A