HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153690457C>G , CM000685.2:g.153690457C>G | GRCh38 |
NC_000023.10:g.152955912C>G , CM000685.1:g.152955912C>G | GRCh37 |
NC_000023.9:g.152609106C>G | NCBI36 |
NG_012016.1:g.7161C>G | |
NG_012016.2:g.7161C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.345C>G MANE Select | ENSP00000253122.5:p.Phe115Leu | |
ENST00000675713.1:n.99C>G | ||
ENST00000253122.9:c.345C>G | ENSP00000253122.5:p.Phe115Leu | |
ENST00000430077.6:c.-1C>G | ENSP00000403041.2:n.-1C>G | |
ENST00000476466.1:n.197C>G | ||
NM_001142805.1:c.345C>G | NP_001136277.1:p.Phe115Leu | |
NM_001142806.1:c.-1C>G | NP_001136278.1:n.-1C>G | |
NM_005629.3:c.345C>G | NP_005620.1:p.Phe115Leu | |
NM_005629.4:c.345C>G MANE Select | NP_005620.1:p.Phe115Leu | |
NM_001142805.2:c.345C>G | NP_001136277.1:p.Phe115Leu |