Canonical Allele Identifier: CA76316052
Gene:

Linked Data

dbSNP Id: rs921953907
gnomAD v3: 3-61428095-T-C
gnomAD v4: 3-61428095-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61428095T>C , CM000665.2:g.61428095T>C GRCh38
NC_000003.11:g.61413769T>C , CM000665.1:g.61413769T>C GRCh37
NC_000003.10:g.61388809T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940892.1:n.165-409A>G
XR_940893.1:n.164+419A>G
XR_001740725.1:n.202+419A>G
XR_940892.2:n.203-409A>G