Canonical Allele Identifier: CA11444964
Gene:

Linked Data

dbSNP Id: rs77412796
gnomAD v2: 3-61413724-A-G
gnomAD v3: 3-61428050-A-G
gnomAD v4: 3-61428050-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61428050A>G , CM000665.2:g.61428050A>G GRCh38
NC_000003.11:g.61413724A>G , CM000665.1:g.61413724A>G GRCh37
NC_000003.10:g.61388764A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940892.1:n.165-364T>C
XR_940893.1:n.164+464T>C
XR_001740725.1:n.202+464T>C
XR_940892.2:n.203-364T>C