Canonical Allele Identifier: CA833583275
Gene:

Linked Data

dbSNP Id: rs1287984313
gnomAD v3: 7-13400498-C-G
gnomAD v4: 7-13400498-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400498C>G , CM000669.2:g.13400498C>G GRCh38
NC_000007.13:g.13440123C>G , CM000669.1:g.13440123C>G GRCh37
NC_000007.12:g.13406648C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90175C>G