HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116781635A= , CM000673.2:g.116781635A= | GRCh38 |
NC_000011.9:g.116652351A= , CM000673.1:g.116652351A= | GRCh37 |
NC_000011.8:g.116157561A= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227322.8:c.1179+523T= MANE Select | ENSP00000227322.3:n.1179+523T= | |
ENST00000227322.7:c.1179+523T= | ENSP00000227322.3:n.1179+523T= | |
ENST00000429220.5:c.958+523T= | ||
ENST00000444935.5:c.1091+1284T= | ||
NM_003904.3:c.1179+523T= | NP_003895.1:n.1179+523T= | |
NM_001317086.1:c.1017+523T= | NP_001304015.1:n.1017+523T= | |
NM_003904.4:c.1179+523T= | NP_003895.1:n.1179+523T= | |
XR_001748023.2:n.2507+523T= | ||
NM_003904.5:c.1179+523T= MANE Select | NP_003895.1:n.1179+523T= | |
NM_001317086.2:c.1017+523T= | NP_001304015.1:n.1017+523T= |