Canonical Allele Identifier: CA1035662666

Gene:

Linked Data

• dbSNP Id: rs1690912075
• gnomAD v3: 2-120332011-C-T
• gnomAD v4: 2-120332011-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120332011C>T , CM000664.2:g.120332011C>T	GRCh38
NC_000002.11:g.121089587C>T , CM000664.1:g.121089587C>T	GRCh37
NC_000002.10:g.120806057C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512307.1:c.141+3205C>T	XP_011510609.1:n.141+3205C>T