Canonical Allele Identifier: CA1083492574
Gene:

Linked Data

dbSNP Id: rs1754313572
gnomAD v3: 5-159333077-G-C
gnomAD v4: 5-159333077-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159333077G>C , CM000667.2:g.159333077G>C GRCh38
NC_000005.9:g.158760085G>C , CM000667.1:g.158760085G>C GRCh37
NC_000005.8:g.158692663G>C NCBI36
NG_009618.1:g.2397C>G , LRG_71:g.2397C>G

Transcript Alleles

HGVS Amino-acid Change
NR_037889.1:n.745+74G>C
Search 100 bp 5'
Search 100 bp 3'