Linked Data
ClinVar Variation Id:
1392416
ClinVar RCV Id:
RCV001882171
dbSNP Id:
rs2133443795
gnomAD v4:
10-73251982-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73251982T>C , CM000672.2:g.73251982T>C | GRCh38 |
| NC_000010.10:g.75011740T>C , CM000672.1:g.75011740T>C | GRCh37 |
| NC_000010.9:g.74681746T>C | NCBI36 |
| NG_008096.1:g.5712A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.55A>G (MRPS16) MANE Select | ENSP00000362036.3:p.Ile19Val | |
| ENST00000372940.3:c.55A>G (MRPS16) | ENSP00000362031.3:p.Ile19Val | |
| ENST00000372945.7:c.55A>G (MRPS16) | ENSP00000362036.3:p.Ile19Val | |
| ENST00000471251.5:n.188A>G (MRPS16) | ||
| ENST00000473427.1:n.145A>G (MRPS16) | ||
| ENST00000479005.1:n.212A>G (MRPS16) | ||
| NM_016065.3:c.55A>G (MRPS16) | NP_057149.1:p.Ile19Val | |
| NR_038373.1:n.175+3532T>C (DNAJC9-AS1) | ||
| XR_946059.1:n.120+241T>C | ||
| NM_016065.4:c.55A>G (MRPS16) MANE Select | NP_057149.1:p.Ile19Val |