Canonical Allele Identifier: CA2685463859

Gene:

Linked Data

• dbSNP Id: rs2129464906
• gnomAD v4: 7-148807235-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807235T>C , CM000669.2:g.148807235T>C	GRCh38
NC_000007.13:g.148504327T>C , CM000669.1:g.148504327T>C	GRCh37
NC_000007.12:g.148135260T>C	NCBI36
NG_032043.1:g.82115A>G , LRG_531:g.82115A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2150T>C
XR_928102.1:n.722+2150T>C