Linked Data
dbSNP Id:
rs104894168
gnomAD v2:
10-75010693-G-T
gnomAD v3:
10-73250935-G-T
gnomAD v4:
10-73250935-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73250935G>T , CM000672.2:g.73250935G>T | GRCh38 |
| NC_000010.10:g.75010693G>T , CM000672.1:g.75010693G>T | GRCh37 |
| NC_000010.9:g.74680699G>T | NCBI36 |
| NG_008096.1:g.6759C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372945.8:c.331C>A (MRPS16) MANE Select | ENSP00000362036.3:p.Arg111= | |
| ENST00000372940.3:c.274+828C>A (MRPS16) | ENSP00000362031.3:n.274+828C>A | |
| ENST00000372945.7:c.331C>A (MRPS16) | ENSP00000362036.3:p.Arg111= | |
| ENST00000471251.5:n.464C>A (MRPS16) | ||
| ENST00000473427.1:n.421C>A (MRPS16) | ||
| ENST00000479005.1:n.488C>A (MRPS16) | ||
| NM_016065.3:c.331C>A (MRPS16) | NP_057149.1:p.Arg111= | |
| NR_038373.1:n.175+2485G>T (DNAJC9-AS1) | ||
| NM_016065.4:c.331C>A (MRPS16) MANE Select | NP_057149.1:p.Arg111= |