Canonical Allele Identifier: CA817908567
Gene:

Linked Data

dbSNP Id: rs1406424314
gnomAD v3: 6-11943720-C-T
gnomAD v4: 6-11943720-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943720C>T , CM000668.2:g.11943720C>T GRCh38
NC_000006.11:g.11943953C>T , CM000668.1:g.11943953C>T GRCh37
NC_000006.10:g.12051939C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-7815C>T