Canonical Allele Identifier: CA143635697
Gene:

Linked Data

dbSNP Id: rs16870040
gnomAD v2: 6-93302271-A-G
gnomAD v3: 6-92592553-A-G
gnomAD v4: 6-92592553-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.92592553A>G , CM000668.2:g.92592553A>G GRCh38
NC_000006.11:g.93302271A>G , CM000668.1:g.93302271A>G GRCh37
NC_000006.10:g.93358992A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_942786.2:n.3780T>C