HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659140A>C , CM000685.2:g.136659140A>C | GRCh38 |
NC_000023.10:g.135741299A>C , CM000685.1:g.135741299A>C | GRCh37 |
NC_000023.9:g.135568965A>C | NCBI36 |
NG_007280.1:g.15964A>C , LRG_141:g.15964A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*129A>C | ENSP00000512122.1:n.*129A>C | |
ENST00000695725.1:c.*66A>C | ENSP00000512123.1:n.*66A>C | |
ENST00000695726.1:n.2479A>C | ||
ENST00000695729.1:n.3314A>C | ||
ENST00000370629.7:c.511A>C MANE Select | ENSP00000359663.2:p.Ile171Leu | |
ENST00000370628.2:c.448A>C | ENSP00000359662.2:p.Ile150Leu | |
ENST00000370629.6:c.511A>C | ENSP00000359663.2:p.Ile171Leu | |
NM_000074.2:c.511A>C , LRG_141t1:c.511A>C | NP_000065.1:p.Ile171Leu | |
NM_000074.3:c.511A>C MANE Select | NP_000065.1:p.Ile171Leu |