Canonical Allele Identifier: CA136858890
Gene:

Linked Data

dbSNP Id: rs981939551
gnomAD v2: 6-31407457-A-C
gnomAD v3: 6-31439680-A-C
gnomAD v4: 6-31439680-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31439680A>C , CM000668.2:g.31439680A>C GRCh38
NC_000006.11:g.31407457A>C , CM000668.1:g.31407457A>C GRCh37
NC_000006.10:g.31515436A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.427T>G