HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659338G= , CM000685.2:g.136659338G= | GRCh38 |
NC_000023.10:g.135741497G= , CM000685.1:g.135741497G= | GRCh37 |
NC_000023.9:g.135569163G= | NCBI36 |
NG_007280.1:g.16162G= , LRG_141:g.16162G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*327G= | ENSP00000512122.1:n.*327G= | |
ENST00000695725.1:c.*264G= | ENSP00000512123.1:n.*264G= | |
ENST00000695726.1:n.2677G= | ||
ENST00000695729.1:n.3512G= | ||
ENST00000370629.7:c.709G= MANE Select | ENSP00000359663.2:p.Val237= | |
ENST00000370628.2:c.646G= | ENSP00000359662.2:p.Val216= | |
ENST00000370629.6:c.709G= | ENSP00000359663.2:p.Val237= | |
NM_000074.2:c.709G= , LRG_141t1:c.709G= | NP_000065.1:p.Val237= | |
NM_000074.3:c.709G= MANE Select | NP_000065.1:p.Val237= |