HGVS | Genome Assembly |
---|---|
NC_000010.11:g.73251894A>C , CM000672.2:g.73251894A>C | GRCh38 |
NC_000010.10:g.75011652A>C , CM000672.1:g.75011652A>C | GRCh37 |
NC_000010.9:g.74681658A>C | NCBI36 |
NG_008096.1:g.5800T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372945.8:c.143T>G (MRPS16) MANE Select | ENSP00000362036.3:p.Val48Gly | |
ENST00000372940.3:c.143T>G (MRPS16) | ENSP00000362031.3:p.Val48Gly | |
ENST00000372945.7:c.143T>G (MRPS16) | ENSP00000362036.3:p.Val48Gly | |
ENST00000471251.5:n.276T>G (MRPS16) | ||
ENST00000473427.1:n.233T>G (MRPS16) | ||
ENST00000479005.1:n.300T>G (MRPS16) | ||
NM_016065.3:c.143T>G (MRPS16) | NP_057149.1:p.Val48Gly | |
NR_038373.1:n.175+3444A>C (DNAJC9-AS1) | ||
XR_946059.1:n.120+153A>C | ||
NM_016065.4:c.143T>G (MRPS16) MANE Select | NP_057149.1:p.Val48Gly |