Canonical Allele Identifier: CA287548421
Gene:

Linked Data

dbSNP Id: rs561435493
gnomAD v2: 17-8040544-G-T
gnomAD v3: 17-8137226-G-T
gnomAD v4: 17-8137226-G-T
MyVariant Identifiers: chr17:g.8040544G>T (hg19) chr17:g.8137226G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137226G>T , CM000679.2:g.8137226G>T GRCh38
NC_000017.10:g.8040544G>T , CM000679.1:g.8040544G>T GRCh37
NC_000017.9:g.7981269G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1623G>T
XR_934203.1:n.70-2251G>T
XR_934202.2:n.414-1623G>T
Search 100 bp 5'
Search 100 bp 3'