Linked Data
dbSNP Id:
rs2044110250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73251900C>T , CM000672.2:g.73251900C>T | GRCh38 |
| NC_000010.10:g.75011658C>T , CM000672.1:g.75011658C>T | GRCh37 |
| NC_000010.9:g.74681664C>T | NCBI36 |
| NG_008096.1:g.5794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.137G>A (MRPS16) MANE Select | ENSP00000362036.3:p.Arg46His | |
| ENST00000372940.3:c.137G>A (MRPS16) | ENSP00000362031.3:p.Arg46His | |
| ENST00000372945.7:c.137G>A (MRPS16) | ENSP00000362036.3:p.Arg46His | |
| ENST00000471251.5:n.270G>A (MRPS16) | ||
| ENST00000473427.1:n.227G>A (MRPS16) | ||
| ENST00000479005.1:n.294G>A (MRPS16) | ||
| NM_016065.3:c.137G>A (MRPS16) | NP_057149.1:p.Arg46His | |
| NR_038373.1:n.175+3450C>T (DNAJC9-AS1) | ||
| XR_946059.1:n.120+159C>T | ||
| NM_016065.4:c.137G>A (MRPS16) MANE Select | NP_057149.1:p.Arg46His |