HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659402T= , CM000685.2:g.136659402T= | GRCh38 |
NC_000023.10:g.135741561T= , CM000685.1:g.135741561T= | GRCh37 |
NC_000023.9:g.135569227T= | NCBI36 |
NG_007280.1:g.16226T= , LRG_141:g.16226T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*391T= | ENSP00000512122.1:n.*391T= | |
ENST00000695725.1:c.*328T= | ENSP00000512123.1:n.*328T= | |
ENST00000695726.1:n.2741T= | ||
ENST00000695729.1:n.3576T= | ||
ENST00000370629.7:c.773T= MANE Select | ENSP00000359663.2:p.Leu258= | |
ENST00000370628.2:c.710T= | ENSP00000359662.2:p.Leu237= | |
ENST00000370629.6:c.773T= | ENSP00000359663.2:p.Leu258= | |
NM_000074.2:c.773T= , LRG_141t1:c.773T= | NP_000065.1:p.Leu258= | |
NM_000074.3:c.773T= MANE Select | NP_000065.1:p.Leu258= |