Canonical Allele Identifier: CA77246675
Gene:

Linked Data

dbSNP Id: rs6792987
gnomAD v2: 3-72315975-A-G
gnomAD v3: 3-72266824-A-G
gnomAD v4: 3-72266824-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72266824A>G , CM000665.2:g.72266824A>G GRCh38
NC_000003.11:g.72315975A>G , CM000665.1:g.72315975A>G GRCh37
NC_000003.10:g.72398665A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940958.1:n.835+8284T>C