HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216033797A= , CM000664.2:g.216033797A= | GRCh38 |
NC_000002.11:g.216898520A= , CM000664.1:g.216898520A= | GRCh37 |
NC_000002.10:g.216606765A= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000424992.5:c.-68+165T= (MREG) | ENSP00000413302.1:n.-68+165T= | |
ENST00000439791.5:c.-182T= (MREG) | ENSP00000411076.1:n.-182T= | |
ENST00000442122.5:c.*440+5394T= (PECR) | ENSP00000395512.1:n.*440+5394T= | |
XR_001738847.2:n.1056-945T= (PECR) | ||
NM_001372189.1:c.-68+165T= (MREG) | NP_001359118.1:n.-68+165T= | |
NM_001372190.1:c.-182T= (MREG) | NP_001359119.1:n.-182T= |