Linked Data
dbSNP Id:
rs2051705526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456841_44456842dup , CM000683.2:g.44456841_44456842dup | GRCh38 |
| NC_000021.8:g.45876724_45876725dup , CM000683.1:g.45876724_45876725dup | GRCh37 |
| NC_000021.7:g.44701152_44701153dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.197_198dup MANE Select | ENSP00000291592.4:p.Val67ProfsTer4 | |
| ENST00000291592.5:c.197_198dup | ENSP00000291592.4:p.Val67ProfsTer4 | |
| NM_030891.4:c.197_198dup | NP_112153.1:p.Val67ProfsTer4 | |
| NM_030891.5:c.197_198dup | NP_112153.1:p.Val67ProfsTer4 | |
| NM_030891.6:c.197_198dup MANE Select | NP_112153.1:p.Val67ProfsTer4 |