Canonical Allele Identifier: CA129835872
Gene:

Linked Data

dbSNP Id: rs1039247331
gnomAD v3: 5-159333105-G-C
gnomAD v4: 5-159333105-G-C
MyVariant Identifiers: chr5:g.158760113G>C (hg19) chr5:g.159333105G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159333105G>C , CM000667.2:g.159333105G>C GRCh38
NC_000005.9:g.158760113G>C , CM000667.1:g.158760113G>C GRCh37
NC_000005.8:g.158692691G>C NCBI36
NG_009618.1:g.2369C>G , LRG_71:g.2369C>G

Transcript Alleles

HGVS Amino-acid change
NR_037889.1:n.745+102G>C
Search 100 bp 5'
Search 100 bp 3'