HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216028897A>G , CM000664.2:g.216028897A>G | GRCh38 |
NC_000002.11:g.216893620A>G , CM000664.1:g.216893620A>G | GRCh37 |
NC_000002.10:g.216601865A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000420348.1:c.-68+3892T>C (MREG) | ENSP00000404470.1:n.-68+3892T>C | |
ENST00000424992.5:c.-68+5065T>C (MREG) | ENSP00000413302.1:n.-68+5065T>C | |
ENST00000439791.5:c.-68+4786T>C (MREG) | ENSP00000411076.1:n.-68+4786T>C | |
ENST00000442122.5:c.*440+10294T>C (PECR) | ENSP00000395512.1:n.*440+10294T>C | |
NM_001372189.1:c.-68+5065T>C (MREG) | NP_001359118.1:n.-68+5065T>C | |
NM_001372190.1:c.-68+4786T>C (MREG) | NP_001359119.1:n.-68+4786T>C |