Canonical Allele Identifier: CA175157821
Gene:

Linked Data

dbSNP Id: rs11786194
gnomAD v2: 8-33673011-A-G
gnomAD v3: 8-33815493-A-G
gnomAD v4: 8-33815493-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33815493A>G , CM000670.2:g.33815493A>G GRCh38
NC_000008.10:g.33673011A>G , CM000670.1:g.33673011A>G GRCh37
NC_000008.9:g.33792553A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949659.1:n.240+19057A>G
XR_002956701.1:n.240+19057A>G