Linked Data
dbSNP Id:
rs1003935502
gnomAD v2:
10-75009162-A-G
gnomAD v3:
10-73249404-A-G
gnomAD v4:
10-73249404-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73249404A>G , CM000672.2:g.73249404A>G | GRCh38 |
| NC_000010.10:g.75009162A>G , CM000672.1:g.75009162A>G | GRCh37 |
| NC_000010.9:g.74679168A>G | NCBI36 |
| NG_008096.1:g.8290T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.*1448T>C (MRPS16) MANE Select | ENSP00000362036.3:n.*1448T>C | |
| ENST00000372940.3:c.275-86T>C (MRPS16) | ENSP00000362031.3:n.275-86T>C | |
| ENST00000372945.7:c.*1448T>C (MRPS16) | ENSP00000362036.3:n.*1448T>C | |
| ENST00000479005.1:n.2019T>C (MRPS16) | ||
| NM_016065.3:c.*1448T>C (MRPS16) | NP_057149.1:n.*1448T>C | |
| NR_038373.1:n.175+954A>G (DNAJC9-AS1) | ||
| NM_016065.4:c.*1448T>C (MRPS16) MANE Select | NP_057149.1:n.*1448T>C |