HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37804011C>T , CM000685.2:g.37804011C>T | GRCh38 |
NC_000023.10:g.37663264C>T , CM000685.1:g.37663264C>T | GRCh37 |
NC_000023.9:g.37548208C>T | NCBI36 |
NG_009065.1:g.28995C>T , LRG_53:g.28995C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*541C>T | ENSP00000512461.1:n.*541C>T | |
ENST00000696171.1:c.936C>T | ENSP00000512462.1:p.Ser312= | |
ENST00000378588.5:c.1032C>T MANE Select | ENSP00000367851.4:p.Ser344= | |
ENST00000378588.4:c.1032C>T | ENSP00000367851.4:p.Ser344= | |
ENST00000465127.1:c.171+378011C>T | ENSP00000417050.1:n.171+378011C>T | |
ENST00000492288.1:n.457C>T | ||
NM_000397.3:c.1032C>T , LRG_53t1:c.1032C>T | NP_000388.2:p.Ser344= | |
XM_011543890.1:c.726C>T | XP_011542192.1:p.Ser242= | |
NM_000397.4:c.1032C>T MANE Select | NP_000388.2:p.Ser344= |