HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173491T>G , CM000678.2:g.173491T>G | GRCh38 |
NC_000016.9:g.223490T>G , CM000678.1:g.223490T>G | GRCh37 |
NC_000016.8:g.163490T>G | NCBI36 |
NG_000006.1:g.34354T>G | |
NG_059186.1:g.1841T>G | |
NG_059271.1:g.5645T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.320T>G MANE Select | ENSP00000251595.6:p.Leu107Arg | |
ENST00000251595.10:c.320T>G | ENSP00000251595.6:p.Leu107Arg | |
ENST00000397806.1:c.224T>G | ENSP00000380908.1:p.Leu75Arg | |
ENST00000482565.1:n.456T>G | ||
NM_000517.4:c.320T>G | NP_000508.1:p.Leu107Arg | |
NM_000517.6:c.320T>G MANE Select | NP_000508.1:p.Leu107Arg |