HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216033951A>G , CM000664.2:g.216033951A>G | GRCh38 |
NC_000002.11:g.216898674A>G , CM000664.1:g.216898674A>G | GRCh37 |
NC_000002.10:g.216606919A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000424992.5:c.-68+11T>C (MREG) | ENSP00000413302.1:n.-68+11T>C | |
ENST00000442122.5:c.*440+5240T>C (PECR) | ENSP00000395512.1:n.*440+5240T>C | |
XR_001738847.2:n.1056-1099T>C (PECR) | ||
NM_001372189.1:c.-68+11T>C (MREG) | NP_001359118.1:n.-68+11T>C |