Canonical Allele Identifier: CA15344097
Gene:

Linked Data

dbSNP Id: rs10034692
gnomAD v2: 4-75419787-A-G
gnomAD v3: 4-74554070-A-G
gnomAD v4: 4-74554070-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554070A>G , CM000666.2:g.74554070A>G GRCh38
NC_000004.11:g.75419787A>G , CM000666.1:g.75419787A>G GRCh37

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1238T>C