HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659396T= , CM000685.2:g.136659396T= | GRCh38 |
NC_000023.10:g.135741555T= , CM000685.1:g.135741555T= | GRCh37 |
NC_000023.9:g.135569221T= | NCBI36 |
NG_007280.1:g.16220T= , LRG_141:g.16220T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*385T= | ENSP00000512122.1:n.*385T= | |
ENST00000695725.1:c.*322T= | ENSP00000512123.1:n.*322T= | |
ENST00000695726.1:n.2735T= | ||
ENST00000695729.1:n.3570T= | ||
ENST00000370629.7:c.767T= MANE Select | ENSP00000359663.2:p.Phe256= | |
ENST00000370628.2:c.704T= | ENSP00000359662.2:p.Phe235= | |
ENST00000370629.6:c.767T= | ENSP00000359663.2:p.Phe256= | |
NM_000074.2:c.767T= , LRG_141t1:c.767T= | NP_000065.1:p.Phe256= | |
NM_000074.3:c.767T= MANE Select | NP_000065.1:p.Phe256= |