Canonical Allele Identifier: CA1081186956
Gene:

Linked Data

dbSNP Id: rs1749024420
gnomAD v3: 5-126002739-G-C
gnomAD v4: 5-126002739-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002739G>C , CM000667.2:g.126002739G>C GRCh38
NC_000005.9:g.125338432G>C , CM000667.1:g.125338432G>C GRCh37
NC_000005.8:g.125366331G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948737.1:n.565+3601C>G
XR_948738.1:n.497+5801C>G
Search 100 bp 5'
Search 100 bp 3'