Canonical Allele Identifier: CA566344756
Gene:

Linked Data

dbSNP Id: rs1475038449
gnomAD v2: 6-31407503-C-T
gnomAD v3: 6-31439726-C-T
gnomAD v4: 6-31439726-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31439726C>T , CM000668.2:g.31439726C>T GRCh38
NC_000006.11:g.31407503C>T , CM000668.1:g.31407503C>T GRCh37
NC_000006.10:g.31515482C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.381G>A