Canonical Allele Identifier: CA2594587440
Gene:

Linked Data

dbSNP Id: rs2113875660
gnomAD v3: 6-31439849-A-G
gnomAD v4: 6-31439849-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31439849A>G , CM000668.2:g.31439849A>G GRCh38
NC_000006.11:g.31407626A>G , CM000668.1:g.31407626A>G GRCh37
NC_000006.10:g.31515605A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.258T>C