Canonical Allele Identifier: CA168905141
Gene:

Linked Data

dbSNP Id: rs953735390
gnomAD v3: 7-148807234-A-G
gnomAD v4: 7-148807234-A-G
MyVariant Identifiers: chr7:g.148504326A>G (hg19) chr7:g.148807234A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807234A>G , CM000669.2:g.148807234A>G GRCh38
NC_000007.13:g.148504326A>G , CM000669.1:g.148504326A>G GRCh37
NC_000007.12:g.148135259A>G NCBI36
NG_032043.1:g.82116T>C , LRG_531:g.82116T>C

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2149A>G
XR_928102.1:n.722+2149A>G
Search 100 bp 5'
Search 100 bp 3'