Linked Data
dbSNP Id:
rs1708134836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745650dup , CM000665.2:g.8745650dup | GRCh38 |
| NC_000003.11:g.8787336dup , CM000665.1:g.8787336dup | GRCh37 |
| NC_000003.10:g.8762336dup | NCBI36 |
| NG_008797.2:g.16841dup , LRG_329:g.16841dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.239dup MANE Select | ENSP00000341940.2:p.Val82ArgfsTer27 | |
| ENST00000343849.2:c.239dup | ENSP00000341940.2:p.Val82ArgfsTer27 | |
| ENST00000397368.2:c.239dup | ENSP00000380525.2:p.Val82ArgfsTer27 | |
| ENST00000472766.1:n.155+11660dup | ||
| NM_001234.4:c.239dup | NP_001225.1:p.Val82ArgfsTer27 | |
| NM_033337.2:c.239dup , LRG_329t1:c.239dup | NP_203123.1:p.Val82ArgfsTer27 | |
| NM_001234.5:c.239dup | NP_001225.1:p.Val82ArgfsTer27 | |
| NM_033337.3:c.239dup MANE Select | NP_203123.1:p.Val82ArgfsTer27 |