HGVS | Genome Assembly |
---|---|
NC_000011.10:g.17553600T= , CM000673.2:g.17553600T= | GRCh38 |
NC_000011.9:g.17575147T= , CM000673.1:g.17575147T= | GRCh37 |
NC_000011.8:g.17531723T= | NCBI36 |
NG_033191.1:g.11228T= | |
NG_033191.2:g.11228T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399391.7:c.576+81T= | ENSP00000382323.2:n.576+81T= | |
ENST00000399397.6:c.540+81T= MANE Select | ENSP00000382329.2:n.540+81T= | |
ENST00000399391.6:c.576+81T= | ENSP00000382323.2:n.576+81T= | |
ENST00000399397.5:c.540+81T= | ENSP00000382329.2:n.540+81T= | |
ENST00000498332.5:n.446+81T= | ||
NM_001277269.1:c.576+81T= | NP_001264198.1:n.576+81T= | |
NM_001292063.1:c.540+81T= | NP_001278992.1:n.540+81T= | |
NM_001277269.2:c.576+81T= | NP_001264198.1:n.576+81T= | |
NM_001292063.2:c.540+81T= MANE Select | NP_001278992.1:n.540+81T= |