Linked Data
ClinVar Variation Id:
218938
ClinVar RCV Id:
RCV000203287
dbSNP Id:
rs864309713
PubMed:
PMID:25736269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48463993_48463994insT , CM000677.2:g.48463993_48463994insT | GRCh38 |
| NC_000015.9:g.48756190_48756191insT , CM000677.1:g.48756190_48756191insT | GRCh37 |
| NC_000015.8:g.46543482_46543483insT | NCBI36 |
| NG_008805.2:g.186795_186796insA , LRG_778:g.186795_186796insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.4970_4971insA | ENSP00000453958.2:p.Cys1658LeufsTer29 | |
| ENST00000674301.2:c.4970_4971insA | ENSP00000501333.2:p.Cys1658LeufsTer29 | |
| ENST00000684448.1:n.3644_3645insA | ||
| ENST00000316623.10:c.4970_4971insA MANE Select | ENSP00000325527.5:p.Cys1658LeufsTer29 | |
| ENST00000316623.9:c.4970_4971insA | ENSP00000325527.5:p.Cys1658LeufsTer29 | |
| ENST00000537463.6:c.*733_*734insA | ENSP00000440294.2:n.*733_*734insA | |
| ENST00000559133.5:c.277_278insA | ||
| NM_000138.4:c.4970_4971insA , LRG_778t1:c.4970_4971insA | NP_000129.3:p.Cys1658LeufsTer29 | |
| NM_000138.5:c.4970_4971insA MANE Select | NP_000129.3:p.Cys1658LeufsTer29 |