HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269442A>G , CM000668.2:g.31269442A>G | GRCh38 |
NC_000006.11:g.31237219A>G , CM000668.1:g.31237219A>G | GRCh37 |
NC_000006.10:g.31345198A>G | NCBI36 |
NG_029422.2:g.7690T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1048+51T>C MANE Select | ENSP00000365402.5:n.1048+51T>C | |
ENST00000376228.9:c.1048+51T>C | ENSP00000365402.5:n.1048+51T>C | |
ENST00000376237.8:c.*635+51T>C | ENSP00000365412.4:n.*635+51T>C | |
ENST00000383329.7:c.1066+51T>C | ENSP00000372819.3:n.1066+51T>C | |
ENST00000466892.5:n.225T>C | ||
ENST00000470363.5:n.806+51T>C | ||
ENST00000487245.5:n.1407+51T>C | ||
NM_002117.5:c.1048+51T>C | NP_002108.4:n.1048+51T>C | |
NM_002117.6:c.1048+51T>C MANE Select | NP_002108.4:n.1048+51T>C |