Canonical Allele Identifier: CA136859124
Gene:

Linked Data

dbSNP Id: rs944104428
gnomAD v2: 6-31407873-T-G
gnomAD v3: 6-31440096-T-G
gnomAD v4: 6-31440096-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31440096T>G , CM000668.2:g.31440096T>G GRCh38
NC_000006.11:g.31407873T>G , CM000668.1:g.31407873T>G GRCh37
NC_000006.10:g.31515852T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.55-44A>C