HGVS | Genome Assembly |
---|---|
NC_000010.11:g.63514978G= , CM000672.2:g.63514978G= | GRCh38 |
NC_000010.10:g.65274738G= , CM000672.1:g.65274738G= | GRCh37 |
NC_000010.9:g.64944744G= | NCBI36 |
NG_053187.1:g.12098C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000633035.1:n.113+6760C= | ||
NM_001318154.1:c.-379+6760C= | NP_001305083.1:n.-379+6760C= | |
NM_001322258.1:c.-384+6760C= | NP_001309187.1:n.-384+6760C= | |
XM_017015897.1:c.-265+6760C= | XP_016871386.1:n.-265+6760C= | |
XM_017015899.1:c.-701+6760C= | XP_016871388.1:n.-701+6760C= | |
XM_017015901.1:c.-595+6760C= | XP_016871390.1:n.-595+6760C= | |
XM_017015903.1:c.-481+6760C= | XP_016871392.1:n.-481+6760C= | |
NM_001318154.2:c.-379+6760C= | NP_001305083.1:n.-379+6760C= | |
NM_001322258.2:c.-384+6760C= | NP_001309187.1:n.-384+6760C= |