HGVS | Genome Assembly |
---|---|
NC_000011.10:g.13728672T>G , CM000673.2:g.13728672T>G | GRCh38 |
NC_000011.9:g.13750219T>G , CM000673.1:g.13750219T>G | GRCh37 |
NC_000011.8:g.13706795T>G | NCBI36 |
NG_041826.1:g.65014T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703358.1:c.*271T>G | ENSP00000515269.1:n.*271T>G | |
ENST00000354817.8:c.1446T>G MANE Select | ENSP00000346874.3:p.Phe482Leu | |
ENST00000354817.7:c.1446T>G | ENSP00000346874.3:p.Phe482Leu | |
ENST00000532502.1:c.318T>G | ENSP00000434624.1:p.Phe106Leu | |
NM_032228.5:c.1446T>G | NP_115604.1:p.Phe482Leu | |
XM_011520400.1:c.1455T>G | XP_011518702.1:p.Phe485Leu | |
XM_011520401.1:c.1278T>G | XP_011518703.1:p.Phe426Leu | |
XM_011520400.2:c.1455T>G | XP_011518702.1:p.Phe485Leu | |
NM_032228.6:c.1446T>G MANE Select | NP_115604.1:p.Phe482Leu |