Canonical Allele Identifier: CA1092248774

Gene:

Linked Data

• dbSNP Id: rs1772155757
• gnomAD v3: 6-98014483-C-T
• gnomAD v4: 6-98014483-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98014483C>T , CM000668.2:g.98014483C>T	GRCh38
NC_000006.11:g.98462359C>T , CM000668.1:g.98462359C>T	GRCh37
NC_000006.10:g.98569080C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245563.2:n.371+45017C>T
XR_942809.1:n.371+45017C>T