HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37803885T>G , CM000685.2:g.37803885T>G | GRCh38 |
NC_000023.10:g.37663138T>G , CM000685.1:g.37663138T>G | GRCh37 |
NC_000023.9:g.37548082T>G | NCBI36 |
NG_009065.1:g.28869T>G , LRG_53:g.28869T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696170.1:c.*415T>G | ENSP00000512461.1:n.*415T>G | |
ENST00000696171.1:c.810T>G | ENSP00000512462.1:p.Thr270= | |
ENST00000378588.5:c.906T>G MANE Select | ENSP00000367851.4:p.Thr302= | |
ENST00000378588.4:c.906T>G | ENSP00000367851.4:p.Thr302= | |
ENST00000465127.1:c.171+377885T>G | ENSP00000417050.1:n.171+377885T>G | |
ENST00000492288.1:n.331T>G | ||
NM_000397.3:c.906T>G , LRG_53t1:c.906T>G | NP_000388.2:p.Thr302= | |
XM_011543890.1:c.600T>G | XP_011542192.1:p.Thr200= | |
NM_000397.4:c.906T>G MANE Select | NP_000388.2:p.Thr302= |