Canonical Allele Identifier: CA2403722490

Gene:

Linked Data

• dbSNP Id: rs1603473788

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129795C>T , CM000684.2:g.36129795C>T	GRCh38
NC_000022.10:g.36525843C>T , CM000684.1:g.36525843C>T	GRCh37
NC_000022.9:g.34855789C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3367G>A
XR_938219.1:n.3124+17G>A
XR_938220.1:n.3124+17G>A
XR_938221.1:n.1471+4067G>A
XR_001755516.2:n.4986+17G>A
XR_001755517.2:n.3213+17G>A
XR_001755518.2:n.4986+17G>A
XR_001755519.2:n.4986+17G>A
XR_001755520.2:n.4986+17G>A
XR_001755521.2:n.4986+17G>A
XR_001755522.2:n.1637-2022G>A
XR_001755525.2:n.1637-441G>A
XR_001755526.2:n.1637-2022G>A
XR_430441.4:n.1636+3367G>A