HGVS | Genome Assembly |
---|---|
NC_000010.11:g.73252016G>T , CM000672.2:g.73252016G>T | GRCh38 |
NC_000010.10:g.75011774G>T , CM000672.1:g.75011774G>T | GRCh37 |
NC_000010.9:g.74681780G>T | NCBI36 |
NG_008096.1:g.5678C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372945.8:c.21C>A (MRPS16) MANE Select | ENSP00000362036.3:p.Leu7= | |
ENST00000372940.3:c.21C>A (MRPS16) | ENSP00000362031.3:p.Leu7= | |
ENST00000372945.7:c.21C>A (MRPS16) | ENSP00000362036.3:p.Leu7= | |
ENST00000471251.5:n.154C>A (MRPS16) | ||
ENST00000473427.1:n.111C>A (MRPS16) | ||
ENST00000479005.1:n.178C>A (MRPS16) | ||
NM_016065.3:c.21C>A (MRPS16) | NP_057149.1:p.Leu7= | |
NR_038373.1:n.175+3566G>T (DNAJC9-AS1) | ||
XR_946059.1:n.120+275G>T | ||
NM_016065.4:c.21C>A (MRPS16) MANE Select | NP_057149.1:p.Leu7= |