Linked Data
dbSNP Id:
rs2093760133
gnomAD v3:
16-2340781-T-TGCGCAGTCGGCCGCCC
gnomAD v4:
16-2340781-T-TGCGCAGTCGGCCGCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340782_2340797dup , CM000678.2:g.2340782_2340797dup | GRCh38 |
| NC_000016.9:g.2390783_2390798dup , CM000678.1:g.2390783_2390798dup | GRCh37 |
| NC_000016.8:g.2330784_2330799dup | NCBI36 |
| NG_011790.1:g.4950_4965dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640929.1:n.42+1451_42+1466dup | ||
| ENST00000512848.5:n.182+1451_182+1466dup |