Canonical Allele Identifier: CA11958356
Gene:
MyVariant.info:
GRCh38 chr5:g.2109787T>C
GRCh37 chr5:g.2109901T>C
gnomAD v2:
5:2109901 T / C
gnomAD v3:
5:2109787 T / C
gnomAD v4:
chr5-2109787-T-C
Joint Max Group AF 0.92748362 (AFR)
Genomes Max Group AF 0.92748362 (AFR)
dbSNP:
6879627
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.2109787T>C , CM000667.2:g.2109787T>C GRCh38
NC_000005.9:g.2109901T>C , CM000667.1:g.2109901T>C GRCh37
NC_000005.8:g.2162901T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925691.1:n.2424-4556T>C
XR_002956203.1:n.7286-4556T>C
XR_002956204.1:n.1075-4556T>C
NR_171679.1:n.2713-4556T>C
Search 100 bp 5'
Search 100 bp 3'