Linked Data
dbSNP Id:
rs766189513
ExAC:
10:75011565 A / G
gnomAD v2:
10-75011565-A-G
gnomAD v3:
10-73251807-A-G
gnomAD v4:
10-73251807-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73251807A>G , CM000672.2:g.73251807A>G | GRCh38 |
| NC_000010.10:g.75011565A>G , CM000672.1:g.75011565A>G | GRCh37 |
| NC_000010.9:g.74681571A>G | NCBI36 |
| NG_008096.1:g.5887T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.230T>C (MRPS16) MANE Select | ENSP00000362036.3:p.Ile77Thr | |
| ENST00000372940.3:c.230T>C (MRPS16) | ENSP00000362031.3:p.Ile77Thr | |
| ENST00000372945.7:c.230T>C (MRPS16) | ENSP00000362036.3:p.Ile77Thr | |
| ENST00000471251.5:n.363T>C (MRPS16) | ||
| ENST00000473427.1:n.320T>C (MRPS16) | ||
| ENST00000479005.1:n.387T>C (MRPS16) | ||
| NM_016065.3:c.230T>C (MRPS16) | NP_057149.1:p.Ile77Thr | |
| NR_038373.1:n.175+3357A>G (DNAJC9-AS1) | ||
| XR_946059.1:n.120+66A>G | ||
| NM_016065.4:c.230T>C (MRPS16) MANE Select | NP_057149.1:p.Ile77Thr |