HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2299662G>A , CM000678.2:g.2299662G>A | GRCh38 |
NC_000016.9:g.2349663G>A , CM000678.1:g.2349663G>A | GRCh37 |
NC_000016.8:g.2289664G>A | NCBI36 |
NG_011790.1:g.46085C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.1612-130C>T MANE Select | ENSP00000301732.5:n.1612-130C>T | |
ENST00000301732.9:c.1612-130C>T | ENSP00000301732.5:n.1612-130C>T | |
ENST00000382381.7:c.1438-130C>T | ENSP00000371818.3:n.1438-130C>T | |
ENST00000563623.5:n.2175-130C>T | ||
NM_001089.2:c.1612-130C>T | NP_001080.2:n.1612-130C>T | |
NM_001089.3:c.1612-130C>T MANE Select | NP_001080.2:n.1612-130C>T |