Canonical Allele Identifier: CA136859044
Gene:

Linked Data

dbSNP Id: rs1015774004
gnomAD v2: 6-31407768-A-G
gnomAD v3: 6-31439991-A-G
gnomAD v4: 6-31439991-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31439991A>G , CM000668.2:g.31439991A>G GRCh38
NC_000006.11:g.31407768A>G , CM000668.1:g.31407768A>G GRCh37
NC_000006.10:g.31515747A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.116T>C