HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31859750A= , CM000668.2:g.31859750A= | GRCh38 |
NC_000006.11:g.31827527A= , CM000668.1:g.31827527A= | GRCh37 |
NC_000006.10:g.31935506A= | NCBI36 |
NG_008201.1:g.8183T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.1217T= MANE Select | ENSP00000364782.4:p.Val406= | |
ENST00000677054.1:n.2556T= | ||
ENST00000677512.1:n.1494T= | ||
ENST00000678869.1:n.1805T= | ||
ENST00000375631.4:c.1217T= | ENSP00000364782.4:p.Val406= | |
ENST00000480384.1:n.1516T= | ||
ENST00000491768.5:c.*327T= | ENSP00000433127.1:n.*327T= | |
ENST00000495807.1:n.2525T= | ||
NM_000434.3:c.1217T= | NP_000425.1:p.Val406= | |
NM_000434.4:c.1217T= MANE Select | NP_000425.1:p.Val406= |