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)

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