HGVS | Genome Assembly |
---|---|
NC_000010.11:g.73251831T>G , CM000672.2:g.73251831T>G | GRCh38 |
NC_000010.10:g.75011589T>G , CM000672.1:g.75011589T>G | GRCh37 |
NC_000010.9:g.74681595T>G | NCBI36 |
NG_008096.1:g.5863A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372945.8:c.206A>C (MRPS16) MANE Select | ENSP00000362036.3:p.Asn69Thr | |
ENST00000372940.3:c.206A>C (MRPS16) | ENSP00000362031.3:p.Asn69Thr | |
ENST00000372945.7:c.206A>C (MRPS16) | ENSP00000362036.3:p.Asn69Thr | |
ENST00000471251.5:n.339A>C (MRPS16) | ||
ENST00000473427.1:n.296A>C (MRPS16) | ||
ENST00000479005.1:n.363A>C (MRPS16) | ||
NM_016065.3:c.206A>C (MRPS16) | NP_057149.1:p.Asn69Thr | |
NR_038373.1:n.175+3381T>G (DNAJC9-AS1) | ||
XR_946059.1:n.120+90T>G | ||
NM_016065.4:c.206A>C (MRPS16) MANE Select | NP_057149.1:p.Asn69Thr |