HGVS | Genome Assembly |
---|---|
NC_000004.12:g.288672G= , CM000666.2:g.288672G= | GRCh38 |
NC_000004.11:g.282461G= , CM000666.1:g.282461G= | GRCh37 |
NC_000004.10:g.272461G= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000419098.6:c.226+6766C= MANE Select | ENSP00000415774.1:n.226+6766C= | |
ENST00000419098.5:c.226+6766C= | ENSP00000415774.1:n.226+6766C= | |
ENST00000619749.1:c.223+6766C= | ENSP00000478210.1:n.223+6766C= | |
NM_001137608.1:c.226+6766C= | NP_001131080.1:n.226+6766C= | |
NM_001137608.2:c.226+6766C= | NP_001131080.1:n.226+6766C= | |
NM_001137608.3:c.226+6766C= MANE Select | NP_001131080.1:n.226+6766C= |