HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269094A>C , CM000668.2:g.31269094A>C | GRCh38 |
NC_000006.11:g.31236871A>C , CM000668.1:g.31236871A>C | GRCh37 |
NC_000006.10:g.31344850A>C | NCBI36 |
NG_029422.2:g.8038T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*75T>G MANE Select | ENSP00000365402.5:n.*75T>G | |
ENST00000376228.9:c.*75T>G | ENSP00000365402.5:n.*75T>G | |
ENST00000376237.8:c.*763T>G | ENSP00000365412.4:n.*763T>G | |
ENST00000383329.7:c.*75T>G | ENSP00000372819.3:n.*75T>G | |
ENST00000466892.5:n.409T>G | ||
ENST00000470363.5:n.934T>G | ||
ENST00000487245.5:n.1535T>G | ||
NM_002117.5:c.*75T>G | NP_002108.4:n.*75T>G | |
NM_002117.6:c.*75T>G MANE Select | NP_002108.4:n.*75T>G |