Linked Data
ClinVar Variation Id:
300723
ClinVar RCV Id:
RCV000677073
dbSNP Id:
rs7905009
ExAC:
10:75011761 A / G
gnomAD v2:
10-75011761-A-G
gnomAD v3:
10-73252003-A-G
gnomAD v4:
10-73252003-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73252003A>G , CM000672.2:g.73252003A>G | GRCh38 |
| NC_000010.10:g.75011761A>G , CM000672.1:g.75011761A>G | GRCh37 |
| NC_000010.9:g.74681767A>G | NCBI36 |
| NG_008096.1:g.5691T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.34T>C (MRPS16) MANE Select | ENSP00000362036.3:p.Tyr12His | |
| ENST00000372940.3:c.34T>C (MRPS16) | ENSP00000362031.3:p.Tyr12His | |
| ENST00000372945.7:c.34T>C (MRPS16) | ENSP00000362036.3:p.Tyr12His | |
| ENST00000471251.5:n.167T>C (MRPS16) | ||
| ENST00000473427.1:n.124T>C (MRPS16) | ||
| ENST00000479005.1:n.191T>C (MRPS16) | ||
| NM_016065.3:c.34T>C (MRPS16) | NP_057149.1:p.Tyr12His | |
| NR_038373.1:n.175+3553A>G (DNAJC9-AS1) | ||
| XR_946059.1:n.120+262A>G | ||
| NM_016065.4:c.34T>C (MRPS16) MANE Select | NP_057149.1:p.Tyr12His |