Canonical Allele Identifier: CA1694873582

Gene:

Linked Data

• dbSNP Id: rs1787251556

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283977G>T , CM000669.2:g.24283977G>T	GRCh38
NC_000007.13:g.24323596G>T , CM000669.1:g.24323596G>T	GRCh37
NC_000007.12:g.24290121G>T	NCBI36
NG_016148.1:g.4790G>T

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-28278C>A	XP_016868399.1:n.42-28278C>A
XM_017012911.1:c.42-28278C>A	XP_016868400.1:n.42-28278C>A
XR_001745121.1:n.473+35380C>A
XR_001745122.1:n.345-86948C>A
XR_001745123.1:n.473+35380C>A
XR_001745124.1:n.473+35380C>A
XR_001745125.1:n.473+35380C>A
XR_001745126.1:n.473+35380C>A
XR_001745127.1:n.345-28278C>A
XR_001745129.1:n.473+35380C>A
XR_001745130.1:n.473+35380C>A
XR_001745131.1:n.473+35380C>A
XR_001745132.1:n.473+35380C>A