Canonical Allele Identifier: CA93117918
Gene:

Linked Data

dbSNP Id: rs1004382040
gnomAD v3: 4-12578248-T-C
gnomAD v4: 4-12578248-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578248T>C , CM000666.2:g.12578248T>C GRCh38
NC_000004.11:g.12579872T>C , CM000666.1:g.12579872T>C GRCh37
NC_000004.10:g.12188970T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31094A>G
XR_001741374.1:n.254+44407A>G
XR_925406.3:n.140+31094A>G