Canonical Allele Identifier: CA11948113
Gene:
MyVariant.info:
GRCh38 chr5:g.151366473A>G
GRCh37 chr5:g.150746034A>G
gnomAD v2:
5:150746034 A / G
gnomAD v3:
5:151366473 A / G
gnomAD v4:
chr5-151366473-A-G
Joint Max Group AF 0.42272089 (SAS)
Genomes Max Group AF 0.41809665 (SAS)
Exomes Max Group AF 0.42108582 (SAS)
dbSNP:
10463316
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151366473A>G , CM000667.2:g.151366473A>G GRCh38
NC_000005.9:g.150746034A>G , CM000667.1:g.150746034A>G GRCh37
NC_000005.8:g.150726227A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647906.1:n.1242T>C
ENST00000517788.1:n.1136T>C
XR_944423.1:n.1285-13667T>C
XR_944425.1:n.1470T>C
XR_944426.1:n.1285-9881T>C
XR_944423.3:n.1318-13667T>C
XR_944425.3:n.1503T>C
XR_944426.3:n.1318-9881T>C
Search 100 bp 5'
Search 100 bp 3'