HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75005913T>G , CM000676.2:g.75005913T>G | GRCh38 |
NC_000014.8:g.75472616T>G , CM000676.1:g.75472616T>G | GRCh37 |
NC_000014.7:g.74542369T>G | NCBI36 |
NG_013333.1:g.8005T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266126.10:c.645T>G MANE Select | ENSP00000266126.5:p.Thr215= | |
ENST00000266126.9:c.645T>G | ENSP00000266126.5:p.Thr215= | |
ENST00000553401.5:c.643T>G | ENSP00000451681.1:n.643T>G | |
ENST00000554748.2:c.9T>G | ENSP00000452582.2:p.Thr3= | |
ENST00000556028.5:c.614T>G | ENSP00000452311.1:p.Leu205Arg | |
NM_014239.3:c.645T>G | NP_055054.1:p.Thr215= | |
NM_014239.4:c.645T>G MANE Select | NP_055054.1:p.Thr215= |