HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713197A>C , CM000681.2:g.6713197A>C | GRCh38 |
NC_000019.9:g.6713208A>C , CM000681.1:g.6713208A>C | GRCh37 |
NC_000019.8:g.6664208A>C | NCBI36 |
NG_009557.1:g.12455T>G , LRG_27:g.12455T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.872T>G | ENSP00000512083.1:p.Leu291Trp | |
ENST00000695654.1:c.119T>G | ENSP00000512085.1:p.Leu40Trp | |
ENST00000695692.1:n.319T>G | ||
ENST00000245907.11:c.995T>G MANE Select | ENSP00000245907.4:p.Leu332Trp | |
ENST00000245907.10:c.995T>G | ENSP00000245907.4:p.Leu332Trp | |
ENST00000594270.5:n.119T>G | ||
ENST00000595577.1:n.499T>G | ||
ENST00000597442.5:n.245T>G | ||
NM_000064.3:c.995T>G | NP_000055.2:p.Leu332Trp | |
NM_000064.4:c.995T>G MANE Select | NP_000055.2:p.Leu332Trp |