Canonical Allele Identifier: CA12044635
Gene:
MyVariant.info:
GRCh38 chr5:g.1252835T>C
GRCh37 chr5:g.1252950T>C
gnomAD v2:
5:1252950 T / C
gnomAD v3:
5:1252835 T / C
gnomAD v4:
chr5-1252835-T-C
Joint Max Group AF 0.57972237 (AFR)
Genomes Max Group AF 0.57972237 (AFR)
dbSNP:
2853691
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1252835T>C , CM000667.2:g.1252835T>C GRCh38
NC_000005.9:g.1252950T>C , CM000667.1:g.1252950T>C GRCh37
NC_000005.8:g.1305950T>C NCBI36
NG_009265.1:g.47213A>G , LRG_343:g.47213A>G

Transcript Alleles

HGVS Amino-acid Change
XR_925683.1:n.286+542T>C
Search 100 bp 5'
Search 100 bp 3'