Linked Data
ClinVar Variation Id:
9192
ClinVar RCV Id:
RCV000009770
dbSNP Id:
rs193922900
PubMed:
PMID:9887340
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786045_18786050dup , CM000681.2:g.18786045_18786050dup | GRCh38 |
| NC_000019.9:g.18896855_18896860dup , CM000681.1:g.18896855_18896860dup | GRCh37 |
| NC_000019.8:g.18757855_18757860dup | NCBI36 |
| NG_007070.1:g.10265_10270dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1414_1419dup MANE Select | ENSP00000222271.2:p.Asp473_Asn474insAspAsp | |
| ENST00000222271.6:c.1414_1419dup | ENSP00000222271.2:p.Asp473_Asn474insAspAsp | |
| ENST00000425807.1:c.1255_1260dup | ENSP00000403792.1:p.Asp420_Asn421insAspAsp | |
| ENST00000542601.6:c.1315_1320dup | ENSP00000439156.2:p.Asp440_Asn441insAspAsp | |
| NM_000095.2:c.1414_1419dup | NP_000086.2:p.Asp473_Asn474insAspAsp | |
| NM_000095.3:c.1414_1419dup MANE Select | NP_000086.2:p.Asp473_Asn474insAspAsp |