Canonical Allele Identifier: CA1066321128

Gene:

Linked Data

• dbSNP Id: rs1724779820
• gnomAD v3: 4-105542528-A-G
• gnomAD v4: 4-105542528-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542528A>G , CM000666.2:g.105542528A>G	GRCh38
NC_000004.11:g.106463685A>G , CM000666.1:g.106463685A>G	GRCh37
NC_000004.10:g.106683134A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.477T>C
XR_939039.1:n.637T>C
XR_939040.1:n.296-1052T>C
XR_001741410.1:n.492T>C
XR_001741411.1:n.968T>C
XR_001741412.1:n.449+43T>C
XR_001741413.1:n.492T>C
XR_001741414.1:n.449+43T>C
XR_939038.2:n.492T>C
XR_939040.2:n.311-1052T>C