Canonical Allele Identifier: CA134049578
Gene:

Linked Data

dbSNP Id: rs187725831
gnomAD v3: 6-8525136-A-G
gnomAD v4: 6-8525136-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8525136A>G , CM000668.2:g.8525136A>G GRCh38
NC_000006.11:g.8525369A>G , CM000668.1:g.8525369A>G GRCh37
NC_000006.10:g.8470368A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_038979.1:n.626-33449A>G
NR_038980.1:n.649-33449A>G