Canonical Allele Identifier: CA134049671
Gene:

Linked Data

dbSNP Id: rs549260442
gnomAD v2: 6-8525537-G-A
gnomAD v3: 6-8525304-G-A
gnomAD v4: 6-8525304-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8525304G>A , CM000668.2:g.8525304G>A GRCh38
NC_000006.11:g.8525537G>A , CM000668.1:g.8525537G>A GRCh37
NC_000006.10:g.8470536G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_038979.1:n.626-33281G>A
NR_038980.1:n.649-33281G>A