HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659140A= , CM000685.2:g.136659140A= | GRCh38 |
NC_000023.10:g.135741299A= , CM000685.1:g.135741299A= | GRCh37 |
NC_000023.9:g.135568965A= | NCBI36 |
NG_007280.1:g.15964A= , LRG_141:g.15964A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*129A= | ENSP00000512122.1:n.*129A= | |
ENST00000695725.1:c.*66A= | ENSP00000512123.1:n.*66A= | |
ENST00000695726.1:n.2479A= | ||
ENST00000695729.1:n.3314A= | ||
ENST00000370629.7:c.511A= MANE Select | ENSP00000359663.2:p.Ile171= | |
ENST00000370628.2:c.448A= | ENSP00000359662.2:p.Ile150= | |
ENST00000370629.6:c.511A= | ENSP00000359663.2:p.Ile171= | |
NM_000074.2:c.511A= , LRG_141t1:c.511A= | NP_000065.1:p.Ile171= | |
NM_000074.3:c.511A= MANE Select | NP_000065.1:p.Ile171= |