HGVS | Genome Assembly |
---|---|
NC_000008.11:g.63072946A= , CM000670.2:g.63072946A= | GRCh38 |
NC_000008.10:g.63985505A= , CM000670.1:g.63985505A= | GRCh37 |
NC_000008.9:g.64148059A= | NCBI36 |
NG_016123.1:g.18108T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260116.5:c.347T= MANE Select | ENSP00000260116.4:p.Ile116= | |
ENST00000260116.4:c.347T= | ENSP00000260116.4:p.Ile116= | |
ENST00000521138.1:n.232+12872T= | ||
NM_000370.3:c.347T= MANE Select | NP_000361.1:p.Ile116= | |
XM_006716468.2:c.205-8630T= | XP_006716531.1:n.205-8630T= | |
XM_006716468.4:c.205-8630T= | XP_006716531.1:n.205-8630T= |