Canonical Allele Identifier: CA1139019650

Gene:

Linked Data

• dbSNP Id: rs2015296609
• gnomAD v3: Y-8606059-G-A
• gnomAD v4: Y-8606059-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8606059G>A , CM000686.2:g.8606059G>A	GRCh38
NC_000024.9:g.8474100G>A , CM000686.1:g.8474100G>A	GRCh37
NC_000024.8:g.8534100G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624507.1:c.53-1028C>T	ENSP00000485522.1:n.53-1028C>T
ENST00000624593.1:c.92+16793C>T	ENSP00000485106.1:n.92+16793C>T