HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985986T>C , CM000678.2:g.1985986T>C | GRCh38 |
NC_000016.9:g.2035987T>C , CM000678.1:g.2035987T>C | GRCh37 |
NC_000016.8:g.1975988T>C | NCBI36 |
NG_016288.1:g.6838T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.351T>C | ENSP00000455885.1:p.Asp117= | |
ENST00000248114.7:c.576T>C MANE Select | ENSP00000248114.6:p.Asp192= | |
ENST00000248114.6:c.576T>C | ENSP00000248114.6:p.Asp192= | |
ENST00000565658.1:n.733T>C | ||
ENST00000567719.1:c.351T>C | ENSP00000455885.1:p.Asp117= | |
ENST00000569451.1:c.*49T>C | ENSP00000456432.1:n.*49T>C | |
NM_005262.2:c.576T>C | NP_005253.3:p.Asp192= | |
NM_005262.3:c.576T>C MANE Select | NP_005253.3:p.Asp192= |