Linked Data
dbSNP Id:
rs760558943
ExAC:
10:75011789 A / C
gnomAD v2:
10-75011789-A-C
gnomAD v3:
10-73252031-A-C
gnomAD v4:
10-73252031-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73252031A>C , CM000672.2:g.73252031A>C | GRCh38 |
| NC_000010.10:g.75011789A>C , CM000672.1:g.75011789A>C | GRCh37 |
| NC_000010.9:g.74681795A>C | NCBI36 |
| NG_008096.1:g.5663T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.14-8T>G (MRPS16) MANE Select | ENSP00000362036.3:n.14-8T>G | |
| ENST00000372940.3:c.14-8T>G (MRPS16) | ENSP00000362031.3:n.14-8T>G | |
| ENST00000372945.7:c.14-8T>G (MRPS16) | ENSP00000362036.3:n.14-8T>G | |
| ENST00000471251.5:n.147-8T>G (MRPS16) | ||
| ENST00000473427.1:n.104-8T>G (MRPS16) | ||
| ENST00000479005.1:n.163T>G (MRPS16) | ||
| NM_016065.3:c.14-8T>G (MRPS16) | NP_057149.1:n.14-8T>G | |
| NR_038373.1:n.175+3581A>C (DNAJC9-AS1) | ||
| XR_946059.1:n.120+290A>C | ||
| NM_016065.4:c.14-8T>G (MRPS16) MANE Select | NP_057149.1:n.14-8T>G |