Canonical Allele Identifier: CA148726795
Gene: SIMALR HGNC NCBI
LINC02865 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.137945548T>C
GRCh37 chr6:g.138266685T>C
gnomAD v2:
6:138266685 T / C
gnomAD v3:
6:137945548 T / C
gnomAD v4:
chr6-137945548-T-C
Joint Max Group AF 0.3114866 (AFR)
Genomes Max Group AF 0.3114866 (AFR)
Exomes Max Group AF 0.05938612 (NFE)
dbSNP:
9321637
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137945548T>C , CM000668.2:g.137945548T>C GRCh38
NC_000006.11:g.138266685T>C , CM000668.1:g.138266685T>C GRCh37
NC_000006.10:g.138308378T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943061.1:n.314+121A>G (SIMALR)
NR_149097.1:n.132+121A>G (SIMALR)
NR_174953.1:n.119+82T>C (LINC02865)
Search 100 bp 5'
Search 100 bp 3'