HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739389A>T , CM000674.2:g.120739389A>T | GRCh38 |
NC_000012.11:g.121177192A>T , CM000674.1:g.121177192A>T | GRCh37 |
NC_000012.10:g.119661575A>T | NCBI36 |
NG_007991.1:g.18622A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.1180A>T MANE Select | ENSP00000242592.4:p.Thr394Ser | |
ENST00000242592.8:c.1180A>T | ENSP00000242592.4:p.Thr394Ser | |
ENST00000411593.2:c.1168A>T | ENSP00000401045.2:p.Thr390Ser | |
NM_000017.3:c.1180A>T | NP_000008.1:p.Thr394Ser | |
NM_001302554.1:c.1168A>T | NP_001289483.1:p.Thr390Ser | |
NM_000017.4:c.1180A>T MANE Select | NP_000008.1:p.Thr394Ser | |
NM_001302554.2:c.1168A>T | NP_001289483.1:p.Thr390Ser |