Linked Data
ClinVar Variation Id:
550289
ClinVar RCV Id:
RCV000664995
dbSNP Id:
rs1555763503
MyVariant Identifiers:
chr19:g.35849267dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849271dup , CM000681.2:g.35849271dup | GRCh38 |
| NC_000019.9:g.36340173dup , CM000681.1:g.36340173dup | GRCh37 |
| NC_000019.8:g.41032013dup | NCBI36 |
| NG_013356.2:g.25021dup , LRG_693:g.25021dup | |
| NG_051206.1:g.2637dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.809dup MANE Select | ENSP00000368190.4:p.Asn271Ter | |
| ENST00000353632.6:c.809dup | ENSP00000343634.5:p.Asn271Ter | |
| ENST00000378910.9:c.809dup | ENSP00000368190.4:p.Asn271Ter | |
| NM_004646.3:c.809dup , LRG_693t1:c.809dup | NP_004637.1:p.Asn271Ter | |
| NM_004646.4:c.809dup MANE Select | NP_004637.1:p.Asn271Ter |