Canonical Allele Identifier: CA171706554
Gene:

Linked Data

dbSNP Id: rs190746059
gnomAD v3: 8-5907776-G-C
gnomAD v4: 8-5907776-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907776G>C , CM000670.2:g.5907776G>C GRCh38
NC_000008.10:g.5765298G>C , CM000670.1:g.5765298G>C GRCh37
NC_000008.9:g.5752706G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-8045C>G
XR_941375.1:n.308-8045C>G
XR_941376.1:n.406-8045C>G
XR_941377.1:n.308-8045C>G
XR_941378.1:n.216-8045C>G
XR_001745765.1:n.308-8045C>G
XR_001745766.1:n.406-8045C>G
XR_001745767.1:n.216-8045C>G
XR_001745768.1:n.308-8045C>G
XR_941374.2:n.308-8045C>G
XR_941375.2:n.308-8045C>G