Canonical Allele Identifier: CA560269402

Gene:

Linked Data

• dbSNP Id: rs1431753378
• gnomAD v2: 5-69345336-G-T
• gnomAD v3: 5-70049509-G-T
• gnomAD v4: 5-70049509-G-T
• MyVariant Identifiers: chr5:g.69345336G>T (hg19) ; chr5:g.70049509G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049509G>T , CM000667.2:g.70049509G>T	GRCh38
NC_000005.9:g.69345336G>T , CM000667.1:g.69345336G>T	GRCh37
NC_000005.8:g.69381092G>T	NCBI36
NG_008728.1:g.4987G>T

Transcript Alleles

HGVS	Amino-acid Change
XR_948432.1:n.1054+61505G>T