HGVS | Genome Assembly |
---|---|
NC_000023.11:g.112403236C>T , CM000685.2:g.112403236C>T | GRCh38 |
NC_000023.10:g.111646464C>T , CM000685.1:g.111646464C>T | GRCh37 |
NC_000023.9:g.111533120C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340433.4:c.-284-27878C>T | ENSP00000340590.2:n.-284-27878C>T | |
ENST00000695808.1:c.-229-51264C>T | ENSP00000512188.1:n.-229-51264C>T | |
ENST00000695839.1:c.-284-27878C>T MANE Select | ENSP00000512211.1:n.-284-27878C>T | |
NM_001004308.2:c.-229-51264C>T | NP_001004308.2:n.-229-51264C>T | |
NM_001004308.3:c.-229-51264C>T | NP_001004308.2:n.-229-51264C>T | |
NM_001395362.2:c.-284-27878C>T MANE Select | NP_001382291.1:n.-284-27878C>T |