Linked Data
dbSNP Id:
rs2075300458
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401421dup , CM000663.2:g.17401421dup | GRCh38 |
| NC_000001.10:g.17727917dup , CM000663.1:g.17727917dup | GRCh37 |
| NC_000001.9:g.17600504dup | NCBI36 |
| NG_032943.1:g.34176dup | |
| NG_032943.2:g.34176dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.2068dup MANE Select | ENSP00000483125.1:p.Trp690LeufsTer29 | |
| NM_207421.4:c.2068dup MANE Select | NP_997304.3:p.Trp690LeufsTer29 |