Linked Data
dbSNP Id:
rs1456775796
gnomAD v2:
10-75011760-T-C
gnomAD v3:
10-73252002-T-C
gnomAD v4:
10-73252002-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73252002T>C , CM000672.2:g.73252002T>C | GRCh38 |
| NC_000010.10:g.75011760T>C , CM000672.1:g.75011760T>C | GRCh37 |
| NC_000010.9:g.74681766T>C | NCBI36 |
| NG_008096.1:g.5692A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.35A>G (MRPS16) MANE Select | ENSP00000362036.3:p.Tyr12Cys | |
| ENST00000372940.3:c.35A>G (MRPS16) | ENSP00000362031.3:p.Tyr12Cys | |
| ENST00000372945.7:c.35A>G (MRPS16) | ENSP00000362036.3:p.Tyr12Cys | |
| ENST00000471251.5:n.168A>G (MRPS16) | ||
| ENST00000473427.1:n.125A>G (MRPS16) | ||
| ENST00000479005.1:n.192A>G (MRPS16) | ||
| NM_016065.3:c.35A>G (MRPS16) | NP_057149.1:p.Tyr12Cys | |
| NR_038373.1:n.175+3552T>C (DNAJC9-AS1) | ||
| XR_946059.1:n.120+261T>C | ||
| NM_016065.4:c.35A>G (MRPS16) MANE Select | NP_057149.1:p.Tyr12Cys |