HGVS | Genome Assembly |
---|---|
NC_000005.10:g.96399128C= , CM000667.2:g.96399128C= | GRCh38 |
NC_000005.9:g.95734832C= , CM000667.1:g.95734832C= | GRCh37 |
NC_000005.8:g.95760588C= | NCBI36 |
NG_021161.1:g.39154G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311106.8:c.1431-92G= MANE Select | ENSP00000308024.2:n.1431-92G= | |
ENST00000311106.7:c.1431-92G= | ENSP00000308024.2:n.1431-92G= | |
ENST00000508626.5:c.1290-92G= | ENSP00000421600.1:n.1290-92G= | |
ENST00000513085.1:n.574-92G= | ||
NM_000439.4:c.1431-92G= | NP_000430.3:n.1431-92G= | |
NM_001177875.1:c.1290-92G= | NP_001171346.1:n.1290-92G= | |
NR_130776.1:n.354+19476C= | ||
NM_000439.5:c.1431-92G= MANE Select | NP_000430.3:n.1431-92G= | |
NM_001177875.2:c.1290-92G= | NP_001171346.1:n.1290-92G= |