HGVS | Genome Assembly |
---|---|
NC_000010.11:g.73249542G>T , CM000672.2:g.73249542G>T | GRCh38 |
NC_000010.10:g.75009300G>T , CM000672.1:g.75009300G>T | GRCh37 |
NC_000010.9:g.74679306G>T | NCBI36 |
NG_008096.1:g.8152C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372945.8:c.*1310C>A (MRPS16) MANE Select | ENSP00000362036.3:n.*1310C>A | |
ENST00000372940.3:c.275-224C>A (MRPS16) | ENSP00000362031.3:n.275-224C>A | |
ENST00000372945.7:c.*1310C>A (MRPS16) | ENSP00000362036.3:n.*1310C>A | |
ENST00000479005.1:n.1881C>A (MRPS16) | ||
NM_016065.3:c.*1310C>A (MRPS16) | NP_057149.1:n.*1310C>A | |
NR_038373.1:n.175+1092G>T (DNAJC9-AS1) | ||
NM_016065.4:c.*1310C>A (MRPS16) MANE Select | NP_057149.1:n.*1310C>A |