HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37805038G>T , CM000685.2:g.37805038G>T | GRCh38 |
NC_000023.10:g.37664291G>T , CM000685.1:g.37664291G>T | GRCh37 |
NC_000023.9:g.37549235G>T | NCBI36 |
NG_009065.1:g.30022G>T , LRG_53:g.30022G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*693G>T | ENSP00000512461.1:n.*693G>T | |
ENST00000696171.1:c.1088G>T | ENSP00000512462.1:p.Ser363Ile | |
ENST00000378588.5:c.1184G>T MANE Select | ENSP00000367851.4:p.Ser395Ile | |
ENST00000378588.4:c.1184G>T | ENSP00000367851.4:p.Ser395Ile | |
ENST00000465127.1:c.171+379038G>T | ENSP00000417050.1:n.171+379038G>T | |
NM_000397.3:c.1184G>T , LRG_53t1:c.1184G>T | NP_000388.2:p.Ser395Ile | |
XM_011543890.1:c.878G>T | XP_011542192.1:p.Ser293Ile | |
NM_000397.4:c.1184G>T MANE Select | NP_000388.2:p.Ser395Ile |