HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133532183A>C , CM000672.2:g.133532183A>C | GRCh38 |
NC_000010.10:g.135345687A>C , CM000672.1:g.135345687A>C | GRCh37 |
NC_000010.9:g.135195677A>C | NCBI36 |
NG_008383.1:g.9821A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252945.8:c.547A>C MANE Select | ENSP00000252945.3:p.Ile183Leu | |
ENST00000252945.7:c.547A>C | ENSP00000252945.3:p.Ile183Leu | |
ENST00000368520.1:n.608A>C | ||
ENST00000418356.1:c.136A>C | ENSP00000397299.1:p.Ile46Leu | |
ENST00000421586.5:c.286A>C | ENSP00000412754.1:p.Ile96Leu | |
ENST00000463117.6:c.547A>C | ENSP00000440689.1:p.Ile183Leu | |
ENST00000477500.5:n.448+449A>C | ||
ENST00000541080.5:c.226+449A>C | ||
NM_000773.3:c.547A>C | NP_000764.1:p.Ile183Leu | |
NM_000773.4:c.547A>C MANE Select | NP_000764.1:p.Ile183Leu |