HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48974614C= , CM000681.2:g.48974614C= | GRCh38 |
NC_000019.9:g.49477871C= , CM000681.1:g.49477871C= | GRCh37 |
NC_000019.8:g.54169683C= | NCBI36 |
NG_012923.1:g.23740G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323798.8:c.1422+6G= MANE Select | ENSP00000317904.3:n.1422+6G= | |
ENST00000263276.6:c.1230+6G= | ENSP00000263276.6:n.1230+6G= | |
ENST00000323798.7:c.1422+6G= | ENSP00000317904.3:n.1422+6G= | |
ENST00000472004.5:n.177+6G= | ||
ENST00000496048.1:n.329+6G= | ||
NM_001161587.1:c.1230+6G= | NP_001155059.1:n.1230+6G= | |
NM_002103.4:c.1422+6G= | NP_002094.2:n.1422+6G= | |
NR_027763.1:n.1481+6G= | ||
NM_002103.5:c.1422+6G= MANE Select | NP_002094.2:n.1422+6G= | |
NM_001161587.2:c.1230+6G= | NP_001155059.1:n.1230+6G= | |
NR_027763.2:n.1437+6G= |