Canonical Allele Identifier: CA261186134
Gene:

Linked Data

dbSNP Id: rs140975684
gnomAD v2: 14-49534401-C-T
gnomAD v3: 14-49067683-C-T
gnomAD v4: 14-49067683-C-T
MyVariant Identifiers: chr14:g.49534401C>T (hg19) chr14:g.49067683C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49067683C>T , CM000676.2:g.49067683C>T GRCh38
NC_000014.8:g.49534401C>T , CM000676.1:g.49534401C>T GRCh37
NC_000014.7:g.48604151C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943837.1:n.222+2109G>A
XR_943837.2:n.345+2109G>A
Search 100 bp 5'
Search 100 bp 3'