Linked Data
dbSNP Id:
rs935450280
gnomAD v2:
10-75009296-A-C
gnomAD v3:
10-73249538-A-C
gnomAD v4:
10-73249538-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73249538A>C , CM000672.2:g.73249538A>C | GRCh38 |
| NC_000010.10:g.75009296A>C , CM000672.1:g.75009296A>C | GRCh37 |
| NC_000010.9:g.74679302A>C | NCBI36 |
| NG_008096.1:g.8156T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.*1314T>G (MRPS16) MANE Select | ENSP00000362036.3:n.*1314T>G | |
| ENST00000372940.3:c.275-220T>G (MRPS16) | ENSP00000362031.3:n.275-220T>G | |
| ENST00000372945.7:c.*1314T>G (MRPS16) | ENSP00000362036.3:n.*1314T>G | |
| ENST00000479005.1:n.1885T>G (MRPS16) | ||
| NM_016065.3:c.*1314T>G (MRPS16) | NP_057149.1:n.*1314T>G | |
| NR_038373.1:n.175+1088A>C (DNAJC9-AS1) | ||
| NM_016065.4:c.*1314T>G (MRPS16) MANE Select | NP_057149.1:n.*1314T>G |