Linked Data
dbSNP Id:
rs146931290
ExAC:
10:75011726 C / T
gnomAD v2:
10-75011726-C-T
gnomAD v4:
10-73251968-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73251968C>T , CM000672.2:g.73251968C>T | GRCh38 |
| NC_000010.10:g.75011726C>T , CM000672.1:g.75011726C>T | GRCh37 |
| NC_000010.9:g.74681732C>T | NCBI36 |
| NG_008096.1:g.5726G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.69G>A (MRPS16) MANE Select | ENSP00000362036.3:p.Leu23= | |
| ENST00000372940.3:c.69G>A (MRPS16) | ENSP00000362031.3:p.Leu23= | |
| ENST00000372945.7:c.69G>A (MRPS16) | ENSP00000362036.3:p.Leu23= | |
| ENST00000471251.5:n.202G>A (MRPS16) | ||
| ENST00000473427.1:n.159G>A (MRPS16) | ||
| ENST00000479005.1:n.226G>A (MRPS16) | ||
| NM_016065.3:c.69G>A (MRPS16) | NP_057149.1:p.Leu23= | |
| NR_038373.1:n.175+3518C>T (DNAJC9-AS1) | ||
| XR_946059.1:n.120+227C>T | ||
| NM_016065.4:c.69G>A (MRPS16) MANE Select | NP_057149.1:p.Leu23= |