HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216033740G>C , CM000664.2:g.216033740G>C | GRCh38 |
NC_000002.11:g.216898463G>C , CM000664.1:g.216898463G>C | GRCh37 |
NC_000002.10:g.216606708G>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000424992.5:c.-68+222C>G (MREG) | ENSP00000413302.1:n.-68+222C>G | |
ENST00000439791.5:c.-125C>G (MREG) | ENSP00000411076.1:n.-125C>G | |
ENST00000442122.5:c.*440+5451C>G (PECR) | ENSP00000395512.1:n.*440+5451C>G | |
XR_001738847.2:n.1056-888C>G (PECR) | ||
NM_001372189.1:c.-68+222C>G (MREG) | NP_001359118.1:n.-68+222C>G | |
NM_001372190.1:c.-125C>G (MREG) | NP_001359119.1:n.-125C>G |