Canonical Allele Identifier: CA76316058
Gene:

Linked Data

dbSNP Id: rs10514718
gnomAD v2: 3-61413814-C-G
gnomAD v3: 3-61428140-C-G
gnomAD v4: 3-61428140-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61428140C>G , CM000665.2:g.61428140C>G GRCh38
NC_000003.11:g.61413814C>G , CM000665.1:g.61413814C>G GRCh37
NC_000003.10:g.61388854C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940892.1:n.164+374G>C
XR_940893.1:n.164+374G>C
XR_001740725.1:n.202+374G>C
XR_940892.2:n.202+374G>C