Linked Data
dbSNP Id:
rs1240144538
gnomAD v3:
12-6471116-T-TGGCCCTCGCTCC
gnomAD v4:
12-6471116-T-TGGCCCTCGCTCC
MyVariant Identifiers:
chr12:g.6580282_6580283insGGCCCTCGCTCC (hg19)
chr12:g.6471116_6471117insGGCCCTCGCTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6471118_6471129dup , CM000674.2:g.6471118_6471129dup | GRCh38 |
| NC_000012.11:g.6580284_6580295dup , CM000674.1:g.6580284_6580295dup | GRCh37 |
| NC_000012.10:g.6450545_6450556dup | NCBI36 |
| NG_042188.1:g.4772_4783dup | |
| NG_042188.2:g.4772_4783dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748777.2:n.2385_2396dup | ||
| XR_001748778.2:n.2382_2393dup |