Canonical Allele Identifier: CA168905070
Gene:

Linked Data

dbSNP Id: rs998556893
gnomAD v2: 7-148504248-C-T
gnomAD v3: 7-148807156-C-T
gnomAD v4: 7-148807156-C-T
MyVariant Identifiers: chr7:g.148504248C>T (hg19) chr7:g.148807156C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807156C>T , CM000669.2:g.148807156C>T GRCh38
NC_000007.13:g.148504248C>T , CM000669.1:g.148504248C>T GRCh37
NC_000007.12:g.148135181C>T NCBI36
NG_032043.1:g.82194G>A , LRG_531:g.82194G>A

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2071C>T
XR_928102.1:n.722+2071C>T
Search 100 bp 5'
Search 100 bp 3'