HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216028997G>C , CM000664.2:g.216028997G>C | GRCh38 |
NC_000002.11:g.216893720G>C , CM000664.1:g.216893720G>C | GRCh37 |
NC_000002.10:g.216601965G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000420348.1:c.-68+3792C>G (MREG) | ENSP00000404470.1:n.-68+3792C>G | |
ENST00000424992.5:c.-68+4965C>G (MREG) | ENSP00000413302.1:n.-68+4965C>G | |
ENST00000439791.5:c.-68+4686C>G (MREG) | ENSP00000411076.1:n.-68+4686C>G | |
ENST00000442122.5:c.*440+10194C>G (PECR) | ENSP00000395512.1:n.*440+10194C>G | |
NM_001372189.1:c.-68+4965C>G (MREG) | NP_001359118.1:n.-68+4965C>G | |
NM_001372190.1:c.-68+4686C>G (MREG) | NP_001359119.1:n.-68+4686C>G |