HGVS | Genome Assembly |
---|---|
NC_000001.11:g.151400602C>T , CM000663.2:g.151400602C>T | GRCh38 |
NC_000001.10:g.151373078C>T , CM000663.1:g.151373078C>T | GRCh37 |
NC_000001.9:g.149639702C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290541.7:c.494+14C>T MANE Select | ENSP00000290541.6:n.494+14C>T | |
ENST00000290541.6:c.494+14C>T | ENSP00000290541.6:n.494+14C>T | |
ENST00000474100.1:n.161+14C>T | ||
ENST00000476467.1:n.763C>T | ||
ENST00000493673.1:n.504C>T | ||
ENST00000495288.5:n.536C>T | ||
ENST00000495805.5:n.503+14C>T | ||
NM_002796.2:c.494+14C>T | NP_002787.2:n.494+14C>T | |
NM_002796.3:c.494+14C>T MANE Select | NP_002787.2:n.494+14C>T |