HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116778289A>G , CM000673.2:g.116778289A>G | GRCh38 |
NC_000011.9:g.116649005A>G , CM000673.1:g.116649005A>G | GRCh37 |
NC_000011.8:g.116154215A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227322.8:c.*636T>C MANE Select | ENSP00000227322.3:n.*636T>C | |
ENST00000227322.7:c.*636T>C | ENSP00000227322.3:n.*636T>C | |
ENST00000429220.5:c.1795T>C | ||
ENST00000444935.5:c.1928T>C | ||
NM_001317086.1:c.*636T>C | NP_001304015.1:n.*636T>C | |
NM_003904.4:c.*636T>C | NP_003895.1:n.*636T>C | |
NM_003904.5:c.*636T>C MANE Select | NP_003895.1:n.*636T>C | |
NM_001317086.2:c.*636T>C | NP_001304015.1:n.*636T>C |