Linked Data
dbSNP Id:
rs758566996
ExAC:
10:75011752 C / T
gnomAD v2:
10-75011752-C-T
gnomAD v3:
10-73251994-C-T
gnomAD v4:
10-73251994-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73251994C>T , CM000672.2:g.73251994C>T | GRCh38 |
| NC_000010.10:g.75011752C>T , CM000672.1:g.75011752C>T | GRCh37 |
| NC_000010.9:g.74681758C>T | NCBI36 |
| NG_008096.1:g.5700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.43G>A (MRPS16) MANE Select | ENSP00000362036.3:p.Gly15Ser | |
| ENST00000372940.3:c.43G>A (MRPS16) | ENSP00000362031.3:p.Gly15Ser | |
| ENST00000372945.7:c.43G>A (MRPS16) | ENSP00000362036.3:p.Gly15Ser | |
| ENST00000471251.5:n.176G>A (MRPS16) | ||
| ENST00000473427.1:n.133G>A (MRPS16) | ||
| ENST00000479005.1:n.200G>A (MRPS16) | ||
| NM_016065.3:c.43G>A (MRPS16) | NP_057149.1:p.Gly15Ser | |
| NR_038373.1:n.175+3544C>T (DNAJC9-AS1) | ||
| XR_946059.1:n.120+253C>T | ||
| NM_016065.4:c.43G>A (MRPS16) MANE Select | NP_057149.1:p.Gly15Ser |