Canonical Allele Identifier: CA14171461
Gene:
COSMIC:
COSN24348871 (not active)
MyVariant.info:
GRCh38 chr15:g.61578744C>T
GRCh37 chr15:g.61870943C>T
gnomAD v2:
15:61870943 C / T
gnomAD v3:
15:61578744 C / T
gnomAD v4:
chr15-61578744-C-T
Joint Max Group AF 0.54114473 (NFE)
Genomes Max Group AF 0.54114473 (NFE)
dbSNP:
12592967
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.61578744C>T , CM000677.2:g.61578744C>T GRCh38
NC_000015.9:g.61870943C>T , CM000677.1:g.61870943C>T GRCh37
NC_000015.8:g.59658235C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001751569.1:n.240+11172G>A
XR_001751570.1:n.438+11172G>A
Search 100 bp 5'
Search 100 bp 3'