Canonical Allele Identifier: CA77246664
Gene:

Linked Data

dbSNP Id: rs1046863530
gnomAD v2: 3-72315914-A-G
gnomAD v3: 3-72266763-A-G
gnomAD v4: 3-72266763-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266763A>G , CM000665.2:g.72266763A>G GRCh38
NC_000003.11:g.72315914A>G , CM000665.1:g.72315914A>G GRCh37
NC_000003.10:g.72398604A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8345T>C