Canonical Allele Identifier: CA171706376
Gene:

Linked Data

dbSNP Id: rs74411090
gnomAD v3: 8-5907098-G-C
gnomAD v4: 8-5907098-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907098G>C , CM000670.2:g.5907098G>C GRCh38
NC_000008.10:g.5764620G>C , CM000670.1:g.5764620G>C GRCh37
NC_000008.9:g.5752028G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7367C>G
XR_941375.1:n.308-7367C>G
XR_941376.1:n.406-7367C>G
XR_941377.1:n.308-7367C>G
XR_941378.1:n.216-7367C>G
XR_001745765.1:n.308-7367C>G
XR_001745766.1:n.406-7367C>G
XR_001745767.1:n.216-7367C>G
XR_001745768.1:n.308-7367C>G
XR_941374.2:n.308-7367C>G
XR_941375.2:n.308-7367C>G