Canonical Allele Identifier: CA578646182
Gene:

Linked Data

dbSNP Id: rs1563179156
gnomAD v2: 7-148504260-G-C
gnomAD v3: 7-148807168-G-C
gnomAD v4: 7-148807168-G-C
MyVariant Identifiers: chr7:g.148504260G>C (hg19) chr7:g.148807168G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807168G>C , CM000669.2:g.148807168G>C GRCh38
NC_000007.13:g.148504260G>C , CM000669.1:g.148504260G>C GRCh37
NC_000007.12:g.148135193G>C NCBI36
NG_032043.1:g.82182C>G , LRG_531:g.82182C>G

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2083G>C
XR_928102.1:n.722+2083G>C
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