HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988843T= , CM000672.2:g.94988843T= | GRCh38 |
NC_000010.10:g.96748600T= , CM000672.1:g.96748600T= | GRCh37 |
NC_000010.9:g.96738590T= | NCBI36 |
NG_008385.1:g.55186T= | |
NG_008385.2:g.55686T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.1292-4T= MANE Select | ENSP00000260682.6:n.1292-4T= | |
ENST00000643112.1:c.*301-4T= | ENSP00000496202.1:n.*301-4T= | |
ENST00000260682.6:c.1292-4T= | ENSP00000260682.6:n.1292-4T= | |
NM_000771.3:c.1292-4T= | NP_000762.2:n.1292-4T= | |
NM_000771.4:c.1292-4T= MANE Select | NP_000762.2:n.1292-4T= |