HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269990T= , CM000668.2:g.31269990T= | GRCh38 |
NC_000006.11:g.31237767T= , CM000668.1:g.31237767T= | GRCh37 |
NC_000006.10:g.31345746T= | NCBI36 |
NG_029422.2:g.7142A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.991A= MANE Select | ENSP00000365402.5:p.Met331= | |
ENST00000376228.9:c.991A= | ENSP00000365402.5:p.Met331= | |
ENST00000376237.8:c.*578A= | ENSP00000365412.4:n.*578A= | |
ENST00000383329.7:c.991A= | ENSP00000372819.3:p.Met331= | |
ENST00000470363.5:n.309A= | ||
ENST00000487245.5:n.1350A= | ||
NM_002117.5:c.991A= | NP_002108.4:p.Met331= | |
NM_002117.6:c.991A= MANE Select | NP_002108.4:p.Met331= |