Canonical Allele Identifier: CA12242477
Gene:
dbSNP:
10485165
gnomAD v2:
6:89112817 C / T
gnomAD v3:
6:88403098 C / T
gnomAD v4:
chr6-88403098-C-T
Joint Max Group AF 0.27794464 (EAS)
Genomes Max Group AF 0.27794464 (EAS)
MyVariant.info:
GRCh38 chr6:g.88403098C>T
GRCh37 chr6:g.89112817C>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.88403098C>T , CM000668.2:g.88403098C>T GRCh38
NC_000006.11:g.89112817C>T , CM000668.1:g.89112817C>T GRCh37
NC_000006.10:g.89169536C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_942759.1:n.315+38986G>A
XR_942760.1:n.315+38986G>A
XR_942761.1:n.315+38986G>A
XR_942762.1:n.176+38986G>A
XR_001744248.2:n.330+38986G>A
XR_001744250.1:n.321+38986G>A
XR_001744251.1:n.321+38986G>A
XR_001744252.2:n.321+38986G>A
XR_001744253.1:n.394+38986G>A
XR_942759.2:n.321+38986G>A
Search 100 bp 5'
Search 100 bp 3'