Canonical Allele Identifier: CA651484314

Gene:

Linked Data

• dbSNP Id: rs1780381396
• gnomAD v3: 7-13514180-T-C
• gnomAD v4: 7-13514180-T-C
• COSMIC: COSN15951648 ; COSN16042760 ; COSN16559269

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13514180T>C , CM000669.2:g.13514180T>C	GRCh38
NC_000007.13:g.13553805T>C , CM000669.1:g.13553805T>C	GRCh37
NC_000007.12:g.13520330T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.148-188136T>C