HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3796949A= , CM000681.2:g.3796949A= | GRCh38 |
NC_000019.9:g.3796947A= , CM000681.1:g.3796947A= | GRCh37 |
NC_000019.8:g.3747947A= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395045.6:c.-58+4583T= | ENSP00000378485.1:n.-58+4583T= | |
ENST00000590821.1:n.271+4583T= | ||
ENST00000590849.1:c.-52+4583T= | ENSP00000467992.1:n.-52+4583T= | |
ENST00000590980.1:c.-58+4583T= | ENSP00000467472.1:n.-58+4583T= | |
ENST00000592300.1:n.273-3548T= | ||
ENST00000592612.1:n.251-3551T= | ||
NM_002378.3:c.-58+4583T= | NP_002369.2:n.-58+4583T= | |
XM_011528019.1:c.-58+4583T= | XP_011526321.1:n.-58+4583T= | |
NM_002378.4:c.-58+4583T= | NP_002369.2:n.-58+4583T= |