Canonical Allele Identifier: CA2600345651

Gene:

Linked Data

• dbSNP Id: rs2109791898
• gnomAD v3: 4-74554131-G-C
• gnomAD v4: 4-74554131-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554131G>C , CM000666.2:g.74554131G>C	GRCh38
NC_000004.11:g.75419848G>C , CM000666.1:g.75419848G>C	GRCh37
NC_000004.10:g.75638712G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1299C>G