HGVS | Genome Assembly |
---|---|
NC_000017.11:g.33066661G= , CM000679.2:g.33066661G= | GRCh38 |
NC_000017.10:g.31393679G= , CM000679.1:g.31393679G= | GRCh37 |
NC_000017.9:g.28417792G= | NCBI36 |
NG_029763.1:g.1095147C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225823.7:c.987+22202C= MANE Select | ENSP00000225823.2:n.987+22202C= | |
ENST00000225823.6:c.987+22202C= | ENSP00000225823.2:n.987+22202C= | |
ENST00000359872.6:c.834+22202C= | ENSP00000352934.6:n.834+22202C= | |
ENST00000448983.1:n.392+22202C= | ||
NM_001094.4:c.834+22202C= | NP_001085.2:n.834+22202C= | |
NM_183377.1:c.987+22202C= | NP_899233.1:n.987+22202C= | |
NM_001094.5:c.834+22202C= | NP_001085.2:n.834+22202C= | |
NM_183377.2:c.987+22202C= MANE Select | NP_899233.1:n.987+22202C= |