HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861444G= , CM000668.2:g.31861444G= | GRCh38 |
NC_000006.11:g.31829221G= , CM000668.1:g.31829221G= | GRCh37 |
NC_000006.10:g.31937200G= | NCBI36 |
NG_008201.1:g.6489C= | |
NG_023058.1:g.22603C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.359C= MANE Select | ENSP00000364782.4:p.Thr120= | |
ENST00000677054.1:n.1036C= | ||
ENST00000677512.1:n.467C= | ||
ENST00000678869.1:n.467C= | ||
ENST00000375631.4:c.359C= | ENSP00000364782.4:p.Thr120= | |
ENST00000480384.1:n.388C= | ||
ENST00000491768.5:c.359C= | ENSP00000433127.1:p.Thr120= | |
ENST00000495807.1:n.927C= | ||
NM_000434.3:c.359C= | NP_000425.1:p.Thr120= | |
NM_000434.4:c.359C= MANE Select | NP_000425.1:p.Thr120= |