HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94041353A>G , CM000663.2:g.94041353A>G | GRCh38 |
NC_000001.10:g.94506909A>G , CM000663.1:g.94506909A>G | GRCh37 |
NC_000001.9:g.94279497A>G | NCBI36 |
NG_009073.1:g.84797T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.3378T>C MANE Select | ENSP00000359245.3:p.Leu1126= | |
ENST00000370225.3:c.3378T>C | ENSP00000359245.3:p.Leu1126= | |
ENST00000536513.5:c.-64-1264T>C | ENSP00000439707.2:n.-64-1264T>C | |
NM_000350.2:c.3378T>C | NP_000341.2:p.Leu1126= | |
NM_000350.3:c.3378T>C MANE Select | NP_000341.2:p.Leu1126= |