Canonical Allele Identifier: CA141904240
Gene:

Linked Data

dbSNP Id: rs550500898
gnomAD v2: 6-78174055-C-G
gnomAD v3: 6-77464338-C-G
gnomAD v4: 6-77464338-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.77464338C>G , CM000668.2:g.77464338C>G GRCh38
NC_000006.11:g.78174055C>G , CM000668.1:g.78174055C>G GRCh37
NC_000006.10:g.78230774C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_942706.1:n.545-10188C>G
XR_942707.1:n.545-10188C>G
XR_942708.1:n.545-10188C>G
XR_942709.1:n.545-10188C>G
XR_942708.2:n.545-10188C>G