Canonical Allele Identifier: CA603097682
Gene:

Linked Data

dbSNP Id: rs1267533812
gnomAD v2: 12-6502674-T-A
gnomAD v3: 12-6393508-T-A
gnomAD v4: 12-6393508-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6393508T>A , CM000674.2:g.6393508T>A GRCh38
NC_000012.11:g.6502674T>A , CM000674.1:g.6502674T>A GRCh37
NC_000012.10:g.6372935T>A NCBI36
NG_033039.1:g.23141T>A
NG_033039.2:g.23141T>A

Transcript Alleles

HGVS Amino-acid change
XR_931594.1:n.143T>A