Linked Data
ClinVar Variation Id:
138249
ClinVar RCV Id:
RCV000126805
dbSNP Id:
rs2271909
ExAC:
10:75012248 C / G
gnomAD v2:
10-75012248-C-G
gnomAD v3:
10-73252490-C-G
gnomAD v4:
10-73252490-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73252490C>G , CM000672.2:g.73252490C>G | GRCh38 |
| NC_000010.10:g.75012248C>G , CM000672.1:g.75012248C>G | GRCh37 |
| NC_000010.9:g.74682254C>G | NCBI36 |
| NG_008096.1:g.5204G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.-8G>C (MRPS16) MANE Select | ENSP00000362036.3:n.-8G>C | |
| ENST00000372940.3:c.-8G>C (MRPS16) | ENSP00000362031.3:n.-8G>C | |
| ENST00000372945.7:c.-8G>C (MRPS16) | ENSP00000362036.3:n.-8G>C | |
| ENST00000473427.1:n.103+42G>C (MRPS16) | ||
| ENST00000479005.1:n.136G>C (MRPS16) | ||
| NM_016065.3:c.-8G>C (MRPS16) | NP_057149.1:n.-8G>C | |
| NR_038373.1:n.175+4040C>G (DNAJC9-AS1) | ||
| XR_946059.1:n.121-701C>G | ||
| NM_016065.4:c.-8G>C (MRPS16) MANE Select | NP_057149.1:n.-8G>C |