Canonical Allele Identifier: CA136858942
Gene:

Linked Data

dbSNP Id: rs947511183
gnomAD v3: 6-31439790-C-G
gnomAD v4: 6-31439790-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31439790C>G , CM000668.2:g.31439790C>G GRCh38
NC_000006.11:g.31407567C>G , CM000668.1:g.31407567C>G GRCh37
NC_000006.10:g.31515546C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.317G>C