HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43048296C= , CM000677.2:g.43048296C= | GRCh38 |
NC_000015.9:g.43340494C= , CM000677.1:g.43340494C= | GRCh37 |
NC_000015.8:g.41127786C= | NCBI36 |
NG_012182.1:g.62793G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290650.9:c.1539+96G= MANE Select | ENSP00000290650.4:n.1539+96G= | |
ENST00000290650.8:c.1539+96G= | ENSP00000290650.4:n.1539+96G= | |
ENST00000546274.6:c.1539+96G= | ENSP00000477932.1:n.1539+96G= | |
ENST00000563239.1:c.*203-1007G= | ENSP00000456502.1:n.*203-1007G= | |
ENST00000569971.5:c.410+96G= | ENSP00000455759.1:n.410+96G= | |
NM_174916.2:c.1539+96G= | NP_777576.1:n.1539+96G= | |
NM_174916.3:c.1539+96G= MANE Select | NP_777576.1:n.1539+96G= |