Linked Data
ClinVar Variation Id:
549988
ClinVar RCV Id:
RCV000664593
dbSNP Id:
rs1554702425
MyVariant Identifiers:
chr9:g.101425540dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425540dup , CM000671.2:g.101425540dup | GRCh38 |
| NC_000009.11:g.104187822dup , CM000671.1:g.104187822dup | GRCh37 |
| NC_000009.10:g.103227643dup | NCBI36 |
| NG_012387.1:g.15241dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.712dup MANE Select | ENSP00000497767.1:p.His238ProfsTer? | |
| ENST00000648064.1:c.712dup | ENSP00000497990.1:p.His238ProfsTer? | |
| ENST00000648758.1:c.712dup | ENSP00000497731.1:p.His238ProfsTer? | |
| ENST00000649902.1:c.712dup | ENSP00000497216.1:p.His238ProfsTer? | |
| ENST00000374855.8:c.712dup | ENSP00000363988.4:p.His238ProfsTer? | |
| ENST00000616752.1:c.712dup | ENSP00000481363.1:p.His238ProfsTer? | |
| NM_000035.3:c.712dup | NP_000026.2:p.His238ProfsTer? | |
| NM_000035.4:c.712dup MANE Select | NP_000026.2:p.His238ProfsTer? |