HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74754850C= , CM000677.2:g.74754850C= | GRCh38 |
NC_000015.9:g.75047191C= , CM000677.1:g.75047191C= | GRCh37 |
NC_000015.8:g.72834244C= | NCBI36 |
NG_008431.1:g.37309C= | |
NG_008431.2:g.37309C= | |
NG_061543.1:g.11006C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.1313C= MANE Select | ENSP00000342007.4:p.Thr438= | |
ENST00000343932.4:c.1313C= | ENSP00000342007.4:p.Thr438= | |
NM_000761.4:c.1313C= | NP_000752.2:p.Thr438= | |
NM_000761.5:c.1313C= MANE Select | NP_000752.2:p.Thr438= |