Canonical Allele Identifier: CA12201598
Gene:

Linked Data

dbSNP Id: rs2505059
gnomAD v2: 6-98495952-A-G
gnomAD v3: 6-98048076-A-G
gnomAD v4: 6-98048076-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98048076A>G , CM000668.2:g.98048076A>G GRCh38
NC_000006.11:g.98495952A>G , CM000668.1:g.98495952A>G GRCh37
NC_000006.10:g.98602673A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_245563.2:n.372-51110A>G
XR_942809.1:n.372-51110A>G