Canonical Allele Identifier: CA1025451880

Gene:

Linked Data

• dbSNP Id: rs1291396498
• gnomAD v3: 22-36130014-G-A
• gnomAD v4: 22-36130014-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36130014G>A , CM000684.2:g.36130014G>A	GRCh38
NC_000022.10:g.36526062G>A , CM000684.1:g.36526062G>A	GRCh37
NC_000022.9:g.34856008G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3148C>T
XR_938219.1:n.2922C>T
XR_938220.1:n.2922C>T
XR_938221.1:n.1471+3848C>T
XR_001755516.2:n.4784C>T
XR_001755517.2:n.3011C>T
XR_001755518.2:n.4784C>T
XR_001755519.2:n.4784C>T
XR_001755520.2:n.4784C>T
XR_001755521.2:n.4784C>T
XR_001755522.2:n.1637-2241C>T
XR_001755525.2:n.1637-660C>T
XR_001755526.2:n.1637-2241C>T
XR_430441.4:n.1636+3148C>T