Canonical Allele Identifier: CA175153958
Gene:

Linked Data

dbSNP Id: rs539312640
gnomAD v2: 8-33665713-G-A
gnomAD v3: 8-33808195-G-A
gnomAD v4: 8-33808195-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808195G>A , CM000670.2:g.33808195G>A GRCh38
NC_000008.10:g.33665713G>A , CM000670.1:g.33665713G>A GRCh37
NC_000008.9:g.33785255G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949659.1:n.240+11759G>A
XR_002956701.1:n.240+11759G>A