Canonical Allele Identifier: CA289219352
Gene:

Linked Data

dbSNP Id: rs960793184
gnomAD v2: 17-27703397-G-T
gnomAD v3: 17-29376379-G-T
gnomAD v4: 17-29376379-G-T
MyVariant Identifiers: chr17:g.27703397G>T (hg19) chr17:g.29376379G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29376379G>T , CM000679.2:g.29376379G>T GRCh38
NC_000017.10:g.27703397G>T , CM000679.1:g.27703397G>T GRCh37
NC_000017.9:g.24727523G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011525588.1:c.1008-6074C>A XP_011523890.1:n.1008-6074C>A
Search 100 bp 5'
Search 100 bp 3'