Canonical Allele Identifier: CA154409030
Gene:

Linked Data

dbSNP Id: rs13227425
gnomAD v2: 7-13554008-C-T
gnomAD v3: 7-13514383-C-T
gnomAD v4: 7-13514383-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514383C>T , CM000669.2:g.13514383C>T GRCh38
NC_000007.13:g.13554008C>T , CM000669.1:g.13554008C>T GRCh37
NC_000007.12:g.13520533C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745097.1:n.148-187933C>T