HGVS | Genome Assembly |
---|---|
NC_000010.11:g.73251920G>A , CM000672.2:g.73251920G>A | GRCh38 |
NC_000010.10:g.75011678G>A , CM000672.1:g.75011678G>A | GRCh37 |
NC_000010.9:g.74681684G>A | NCBI36 |
NG_008096.1:g.5774C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372945.8:c.117C>T (MRPS16) MANE Select | ENSP00000362036.3:p.Asn39= | |
ENST00000372940.3:c.117C>T (MRPS16) | ENSP00000362031.3:p.Asn39= | |
ENST00000372945.7:c.117C>T (MRPS16) | ENSP00000362036.3:p.Asn39= | |
ENST00000471251.5:n.250C>T (MRPS16) | ||
ENST00000473427.1:n.207C>T (MRPS16) | ||
ENST00000479005.1:n.274C>T (MRPS16) | ||
NM_016065.3:c.117C>T (MRPS16) | NP_057149.1:p.Asn39= | |
NR_038373.1:n.175+3470G>A (DNAJC9-AS1) | ||
XR_946059.1:n.120+179G>A | ||
NM_016065.4:c.117C>T (MRPS16) MANE Select | NP_057149.1:p.Asn39= |