Canonical Allele Identifier: CA168905117
Gene:

Linked Data

dbSNP Id: rs753367819
gnomAD v2: 7-148504293-T-C
gnomAD v3: 7-148807201-T-C
gnomAD v4: 7-148807201-T-C
MyVariant Identifiers: chr7:g.148504293T>C (hg19) chr7:g.148807201T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807201T>C , CM000669.2:g.148807201T>C GRCh38
NC_000007.13:g.148504293T>C , CM000669.1:g.148504293T>C GRCh37
NC_000007.12:g.148135226T>C NCBI36
NG_032043.1:g.82149A>G , LRG_531:g.82149A>G

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2116T>C
XR_928102.1:n.722+2116T>C
Search 100 bp 5'
Search 100 bp 3'