Canonical Allele Identifier: CA134173696
Gene:

Linked Data

dbSNP Id: rs1052174894
gnomAD v3: 6-11943373-T-C
gnomAD v4: 6-11943373-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943373T>C , CM000668.2:g.11943373T>C GRCh38
NC_000006.11:g.11943606T>C , CM000668.1:g.11943606T>C GRCh37
NC_000006.10:g.12051592T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-8162T>C