Canonical Allele Identifier: CA134173721
Gene:

Linked Data

dbSNP Id: rs569971027
gnomAD v3: 6-11943667-T-G
gnomAD v4: 6-11943667-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943667T>G , CM000668.2:g.11943667T>G GRCh38
NC_000006.11:g.11943900T>G , CM000668.1:g.11943900T>G GRCh37
NC_000006.10:g.12051886T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-7868T>G