Canonical Allele Identifier: CA578646190
Gene:

Linked Data

dbSNP Id: rs1246509395
gnomAD v2: 7-148504285-T-C
gnomAD v3: 7-148807193-T-C
gnomAD v4: 7-148807193-T-C
MyVariant Identifiers: chr7:g.148504285T>C (hg19) chr7:g.148807193T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807193T>C , CM000669.2:g.148807193T>C GRCh38
NC_000007.13:g.148504285T>C , CM000669.1:g.148504285T>C GRCh37
NC_000007.12:g.148135218T>C NCBI36
NG_032043.1:g.82157A>G , LRG_531:g.82157A>G

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2108T>C
XR_928102.1:n.722+2108T>C
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Search 100 bp 3'