Linked Data
ClinVar Variation Id:
43514
ClinVar RCV Id:
RCV000036448
dbSNP Id:
rs111033317
PubMed:
PMID:12676893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107698045_107698046insC , CM000669.2:g.107698045_107698046insC | GRCh38 |
| NC_000007.13:g.107338490_107338491insC , CM000669.1:g.107338490_107338491insC | GRCh37 |
| NC_000007.12:g.107125726_107125727insC | NCBI36 |
| NG_008489.1:g.42411_42412insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1548_1549insC MANE Select | ENSP00000494017.1:p.Ser517LeufsTer10 | |
| ENST00000644846.1:c.259_260insC | ||
| ENST00000265715.7:c.1548_1549insC | ENSP00000265715.3:p.Ser517LeufsTer10 | |
| ENST00000477350.5:n.395_396insC | ||
| ENST00000480841.5:n.397_398insC | ||
| NM_000441.1:c.1548_1549insC | NP_000432.1:p.Ser517LeufsTer10 | |
| XM_005250425.1:c.1548_1549insC | XP_005250482.1:p.Ser517LeufsTer10 | |
| XM_005250425.2:c.1548_1549insC | XP_005250482.1:p.Ser517LeufsTer10 | |
| XM_017012318.1:c.1470_1471insC | XP_016867807.1:p.Ser491LeufsTer10 | |
| NM_000441.2:c.1548_1549insC MANE Select | NP_000432.1:p.Ser517LeufsTer10 |