Canonical Allele Identifier: CA578646201
Gene:

Linked Data

dbSNP Id: rs1425683950
gnomAD v2: 7-148504339-A-G
gnomAD v3: 7-148807247-A-G
gnomAD v4: 7-148807247-A-G
MyVariant Identifiers: chr7:g.148504339A>G (hg19) chr7:g.148807247A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807247A>G , CM000669.2:g.148807247A>G GRCh38
NC_000007.13:g.148504339A>G , CM000669.1:g.148504339A>G GRCh37
NC_000007.12:g.148135272A>G NCBI36
NG_032043.1:g.82103T>C , LRG_531:g.82103T>C

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2162A>G
XR_928102.1:n.722+2162A>G
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