Linked Data
ClinVar Variation Id:
1971809
ClinVar RCV Id:
RCV002741017
dbSNP Id:
rs1589211230
gnomAD v4:
10-73251845-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73251845T>G , CM000672.2:g.73251845T>G | GRCh38 |
| NC_000010.10:g.75011603T>G , CM000672.1:g.75011603T>G | GRCh37 |
| NC_000010.9:g.74681609T>G | NCBI36 |
| NG_008096.1:g.5849A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.192A>C (MRPS16) MANE Select | ENSP00000362036.3:p.Lys64Asn | |
| ENST00000372940.3:c.192A>C (MRPS16) | ENSP00000362031.3:p.Lys64Asn | |
| ENST00000372945.7:c.192A>C (MRPS16) | ENSP00000362036.3:p.Lys64Asn | |
| ENST00000471251.5:n.325A>C (MRPS16) | ||
| ENST00000473427.1:n.282A>C (MRPS16) | ||
| ENST00000479005.1:n.349A>C (MRPS16) | ||
| NM_016065.3:c.192A>C (MRPS16) | NP_057149.1:p.Lys64Asn | |
| NR_038373.1:n.175+3395T>G (DNAJC9-AS1) | ||
| XR_946059.1:n.120+104T>G | ||
| NM_016065.4:c.192A>C (MRPS16) MANE Select | NP_057149.1:p.Lys64Asn |