Canonical Allele Identifier: CA1077893016

Gene:

Linked Data

• dbSNP Id: rs1252033910
• gnomAD v3: 5-79549832-G-C
• gnomAD v4: 5-79549832-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549832G>C , CM000667.2:g.79549832G>C	GRCh38
NC_000005.9:g.78845655G>C , CM000667.1:g.78845655G>C	GRCh37
NC_000005.8:g.78881411G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2188G>C
XR_948498.1:n.159+1995G>C
XR_948499.1:n.67+1530G>C
XR_948497.2:n.72+2188G>C
XR_948498.2:n.159+1995G>C
XR_948499.2:n.225+1530G>C